Saturday, 26 December 2015

Review of 2015

Another year has been and gone and its time for me to reflect on things and consider changes that happened during the year.


Knowledge

I have had quite a busy year, so it has been difficult to find the time to undertake much investigation into HSP research, although I have found a few things here and there. The new find is the HSP maps, and my own contribution on this front. I have a good few ideas ready for some time in 2016 (hopefully!)


Symptoms

Quite simply, this has been a year when I am starting to notice more and more symptoms. I now have insoles in my shoes, and we are working out if I should get AFOs as well. I'm now doing stretches twice daily, and I can spot a difference in my mobility if I miss even a couple of sessions out. I'm taking medicine for my bladder, which continues to help. In more general terms I'm finding I'm using banisters to get up stairs almost all of the time, and it is becoming more tricky to swing my leg over my bike seat.


This Blog

The readership of this blog continues to increase. I'm continuing to get year on year reader growth, and I've now got a page up detailing these statistics. My audience remains broadly the same (predominantly US, UK, Russia, Ukraine, France, Germany, Turkey, Canada). The most popular posts continue to be the results of my survey, the various presentations given at the UK HSP Support Group AGMs and my general posts on research and particular HSP symptoms.

I've had various comments made that people appreciate reading what I have to say, which I'm very pleased to receive and gives another reason why this is a worthwhile thing to do. Thank you to anyone that makes a comment or connects up some other way.


Survey

I was pleased that the results of my 2014 survey got similar levels of readership to my 2013 survey, confirming that these are of use and interest to people, and backing up my decision to do one each year. I had a couple of conversations about my 2015 survey after I launched it, suggesting that some other opinions may be useful going forward. I think that I will begin to repeat some aspects of some surveys in order to get some long term trend data.

I'll follow the same path for the 2015 survey - analysis will start in the new year so I can analyse, write up and publish on 29th Feb - Rare disease day. There are still a few more days when I'll be taking answers!


Community Contribution

This year also marks the start of my wider contribution to the HSP world by becoming a member of the UK support group committee. More on that in 2016, I hope. I am also keeping a slightly wider look out in the rare disease world with some posts on twitter and signing up to mark2cure.

Tuesday, 22 December 2015

Rare Disease Day - the HSP push, Survey reminder

Next year rare disease day falls on the 29th Feb instead of the 28th, its a leap year.

There's a big push to get HSP more publicised on this date with the launch of the Potato Pants HSP brand, and the tagline Taking steps towards a cure. You may be able to spot various things popping up on the HSP groups. Get in touch with your group and find out if you can help.

Not sure where potato pants came from? - Lori Renna Linton came up with the idea in an off-the-cuff remark about what its like living with HSP. She is trying to get on the The Ellen DeGeneres Show in the USA. You can help promote this too: https://www.facebook.com/photo.php?fbid=10153817389592430&set=a.62409792429.69399.749652429&type=3&theater

Talking of Rare Disease Day, there is still time for people to enter my survey. I'd welcome people to spend a few minutes telling me about the modifications that they have made around the home to help them to live with HSP. I'm going to be doing the analysis in the new year, ready for my own rare disease day event. I've nearly got 80 responses now, and it would be really good to break the 100 barrier if possible. You can find the survey here: http://www.surveygizmo.com/s3/2310166/d1b822668a8e








Wednesday, 18 November 2015

Mark 2 cure

I found the https://mark2cure.org website the other week, and I finally found a few minutes to give this a try. The basic premise of the site is that it shows you a paragraph from a medical paper and you have to highlight terms to do with;

  • Diseases
  • Genes
  • Treatments

They give you a bit of on-line training, and then you're off, headlong into reading text and marking them up. The objective is to allow researchers to seek out common connections between papers in order to examine potential relationships. Their focus is on rare disease literature, hence my interest in this. I really like this idea.

Essentially I've been reading the abstracts from exactly this type of paper in order to inform me (and this blog) about HSP, so it struck me as a good idea to use that skill to better use. Now, the issue will be finding the time to do this. I suspect I'll be in-and-out for short times here and there. My first paper took some 5mins to do, but I think its the kind of task which will get easier with repetition.

This text, from their website says what they're on to:

"Mark2Cure works by teaching citizen scientists to precisely identify concepts and concept relationships in biomedical text. This is a task that anyone can learn to do and can perform better than any known computer program. Once these tasks are completed, advanced statistical algorithms take the data provided by the volunteers and use it to provide scientists with new tools for finding the information that they require within the sea of biomedical knowledge.
For example, scientists often have questions like “How might one disease, say Ebola, be related to another disease, say Dengue Fever?”. Such connections may not exist in any one scientific article. By specifically identifying what diseases (and perhaps other concepts) are represented in each article, it may be possible to find hidden connections. These hidden connections form the basis for most important new discoveries.
Mark2Cure is currently on its NGLY1 Campaign. The goal of this campaign is to organize information for researchers studying NGLY1 deficiency. Mark2Curators already demonstrated in the beta experiment that citizen scientists and volunteers can and are willing to help. Now we must demonstrate that the help given by Mark2Curators can make a difference for researchers studying NGLY1.
N-Glycanase 1 deficiency is an extremely rare genetic disorder with less than 40 known cases worldwide. As of April 2015, there were less than 15 articles on this disease indexed in pubmed; hence, researchers need to investigate potentially related literature in order to find more information. Since many of the symptoms of NGLY1 are observed in other disorders the number of potential related articles can easily balloon into an unmanageable number. Working with NGLY1.org and NGLY1 researchers, Mark2Cure has identified a set of 10,000 documents of interest. Your help is needed to organize information in this set of docs. Visit http://Ngly1.org to learn more about this extremely rare disease."

Friday, 6 November 2015

Spatax Network Map

My first venture into online HSP mapping...

I wanted to see the spread of researchers in HSP. I thought it would be reasonably straightforward to create a map of the members of the Spatax Network, and here is that map! http://arcg.is/1HdMp0H

So, this takes the info from here: https://spatax.wordpress.com/the-network-2/ and by a process of looking up addresses through Google, popping those addresses here http://www.latlong.net/ and then importing that data to the ArcGIS online system here https://www.arcgis.com/home/.

I was able to create this map in a couple of hours. Caveats - I believe those locations to be roughly right, based on that data route.

I like the heatmap way of looking at things, and it is immediately obvious that:

  • There's a large chunk of expertise in Paris
  • No-one in the USA, Australia or the far east are involved in the network.
I have plans to expand this map according to the PubMed database of papers, but thats going to be a fair way away as there will be many more addresses to process.

Friday, 23 October 2015

HSP maps

I have found 2 online maps showing the locations of people around the world with HSP. One of these I had found recently, the other I've known about for some time.

The http://freyerse.org/index.html database shows people with HSP, PLS and ALS. This is based in the USA, and (according to the website) was originally set up by Frank Reyerse who was diagnosed with PLS in the early 1990's and aims to connect people with HPS PLS and ALS together worldwide. The map is branded with the http://sp-foundation.org/ logo, and the database now seems to be owned by them. Most of the people on the map are in North America and Europe, but there is also a reasonable number in Australia and New Zealand. I dont seem to be able to find the number of people shown. I have recently and previously tried to get added, but that didn't seem to get through. I've asked why.

The http://www.diseasemaps.org/en/ site has been put together by a group of chronic disease sufferers. The map covers a large (over 100) range of rare diseases,  including HSP. There are nearly 90 people with HSP shown, mostly in North America, South America and Europe. You can find these also on Facebook https://m.facebook.com/Diseasemaps and Twitter https://twitter.com/diseasemaps. I was able to add my details and was visible on the map immediately.

It's clear to me that neither maps are truly worldwide because they have very few people in Asia and Africa, but perhaps this says more about either Internet access and the indexing of search engines or the activity of patient support groups in these parts of the world than it does about the prevalence of HSP.

One final map, on the UK HSP group website you can see a map with the locations of its members, but this is an image rather than an interactive map (link here: http://www.hspgroup.org/)

If anyone has spotted any other maps, I'd love to know about them.

Thursday, 8 October 2015

update to walking and pilates

A brief update on a couple of things:

Walking: At one of the AGMs I went to someone was describing their walking technique as "heels down", And I also recall hearing that from my physio. It seems like a good way of concentrating on walking. As an alternative, my orthotist suggested another way of getting the same result, and that is to walk "toes up". I've tried this, and it feels like a refreshing change to find a new way to think about this. I think I'll alternate between these.

At the same time, I'm also thinking about my knees, and making sure that I move my knee joint each step, particularly extending my lower leg before it touches the ground.

Pilates: New 'trick' at pilates this week. The class in the gym before pilates is body pump (or something like that...) in which they use steps within this class. This week my instructor suggested that I lay on the step for things like the half roll-back, which seemed to help me. Obviously, by getting my back up in the air, my legs are more straight, my hamstrings are not so tight, and that means I can get more out of the exercise.

My instructor observed "wish I'd thought of this week's ago". Looks like the step will be another part of my pilates apparatus. I think this will replace the foam blocks I'm using for those sitting exercises, e.g. spinal rotation.

A quick look on the Internet suggests this is called an "aerobic stepper" and the height is adjustable. I can't find the exact ones at the gym, but this is the kind of idea. http://stepup4fitness.com/21/equipment/aerobic-stepper/

Thursday, 24 September 2015

New In-Soles - A trip to Orthotics

Part of the process from my appointment at the HSP clinic in London last year has (almost) finished with me being given a pair of custom in-soles.

I went for an appointment to see the orthotics team in June. I have "overpronation" - which means that as I transfer my weight from heel to toe walking forwards my foot rolls inwards. So, the weight of my body is borne by the inside edge of my foot, rather than the whole foot. This leads to excessive wear on the inside edges of my shoes, and overpronation can lead to stability problems. Overpronation is common with tight calf muscles.

This style of walking can lead to calluses - hard, thicker skin that develop when the skin is exposed to excessive pressure or friction (http://www.nhs.uk/Conditions/CornsandCalluses/Pages/whatarecornsandcalluses.aspx) . Indeed I have some of this on my feet, on the insides near my toes. The advice is to manage this by visiting a chiropractor, who would remove some of that thicker harder skin. A treatment would be to remove the cause, which in the case of HSP may prove difficult!

However, the analysis by the orthotist was that I have good motion and strength in my legs, and so the reccomendation was to give custom in-soles a try. So, imprints were taken of my feet by me putting each foot in a box of foam (for the florists amongst you, a bit like Oasis, but black instead of green). These were sent away so that EVA insoles could be made. These would be soft at the toes and have a rigid back section.

Earlier in September I went to collect these. (they were ready earlier than that but there was much faffing around with the appointment). Where I am able to remove the insoles of my shoes it is an easy fit to get the insole in. However, for most of my shoes removing the insole is impossible. In this case I need to adjust the laces to allow a little more room.

We tried them in several of my shoes - I was advised to bring a couple of pairs in - and it is clear that they do correct the overpronation. So, hopefully that will cause my calluses to ease off (note, these are not uncomfortable at the moment). When I first stood with the insoles in I could feel that they were pushing the arch of my foot up, which automatically puts more pressure on the outside of my feet.

As the insoles are making a change to my walking style the advice is to wear them in, starting with wearing them for half an hour on the first day, and then doubling up each day so that I'll be wearing them all the time. We discussed my cycling, and decided that I dont need to wear the insoles when cycling. I'll be getting a review in a few weeks time, and I'll be able to get a second set of insoles then. This will mean that I'll have one set to keep in my work shoes, and another set to wear at home.
Interestingly, I now realise that I dont really wear shoes at home at all, so thats a topic for the review.

I've been trialling this whenever I've been wearing shoes going out, and my feet are getting used to this. Next week I'll move the insoles into my work shoes and more than likely leave them there. I'm able to trim the soft edge of the insoles myself so that they fit whichever shoes I wear, and they are able to refine the shape of the hard bit at the orthotics centre.

What do they look like?


This! Here's a picture (before they get too scruffy in my shoes!). The hard bit has the black base, and the flexible bit at the front has the white base.

Further down the line we might consider AFO's and/or carbon fibre/plastic insoles, depending on how things progress.

A final note on muscles from my first session. Muscles act on points, so you can imagine replacing each muscle with a bit of string and controlled by a puppeteer. The calf muscles attach to outside of the heel, so tight calf muscles raise the outside of the foot. The other thing to remember (and I got this from Physio too) that there are two sets of calf muscles, one which attaches above the knee (the gastrocnemius) and which which attaches below the knee (the soleus). So, if your aim is to stretch your calf muscle you need to do two different stretches, one for each muscle.



Friday, 11 September 2015

Autumnal Survey 2015

Update: This 2015 survey is now closed. For details of the results of this survey and any current surveys, please see this page: http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html

Original Post:
After the success of my previous surveys, I'm continuing the pattern with another survey this year.

My main focus for this survey is understanding the modifications which people make around their homes to live with HSP. I also touch on depression and quality of life.

Following the previous pattern, I will collect results until around the end of the year and analyse these to publish on rare disease day 28th Feb 2016.

Also like before, all questions are optional, and I don't collect any personal info apart from your name. If you took part last time, I'd appreciate using the same name to allow tracking.

I would appreciate any readers with HSP to complete this.
http://www.surveygizmo.com/s3/2310166/d1b822668a8e

Saturday, 22 August 2015

UK Rare Disease Survey open till sept.


I saw this rare disease survey earlier in August, and have completed it myself.

Rare Disease UK (http://www.raredisease.org.uk) last did a survey which was published in 2010 and have one open now for completion by anyone who cares for, or is affected by, a rare or undiagnosed disease.

The survey takes between half an hour and an hour to complete, depending on how much information/detail you put in. The survey is open until September, so there are a few weeks left for your contributions.

Rare Disease UK is the body which is:

  • Campaigning for a UK Strategy for Rare Diseases
  • Capturing the experience of the rare disease community to inform policy
  • Providing a united voice for the rare disease community
  • Raising the profile of rare diseases
  • Supporting the rare disease community

Completing this survey add another voice to the collection and may help shape policy/strategy in the future. https://www.surveymonkey.com/r/rduksurvey

Thursday, 20 August 2015

5 Years of blogging

I realised the other day that we're already in August (and now over half way through). My first blog post was back in June 2010, which means that I've now been blogging for just over 5 years - and this is post number 128.

Reflections on this - When I first started this up I had in mind that it would be like a diary. I'd record my thoughts and findings, and that maybe a few other people would find it useful. I'm now 5 years down the line, and to a degree my blog still acts like a diary for my thoughts, and the way in which I write acts two-fold, firstly to present those thoughts so that others can read them, but also to act as a reminder to me for how I was feeling/what I was doing at the time.

I also realise that there are plenty of people who like to read up the information that I find. I get contacted fairly regularly be people who thank me for this blog, and how they have found it useful. the four most popular categories of pages in terms of readership are:

  • My own autumn survey
  • Reports from the UK HSP Support Group AGM
  • Pages about particular HSP symptoms
  • Reports about HSP research
However, I'm most happy to get comments when people are able to relate to the experiences that I describe or learn something new.

Talking of which I tweet about HSP some of the time. If you dont mind also seeing various noise/acoustics things you could follow me https://twitter.com/munkee74. There are some recent #RareDisease things I've spotted and tweeted about:


Swedish scientists create an artificial neuron that mimicks an organic one

Scientists at Sweden’s Karolinska Institutet and Linköping University have built what they claim is a “fully functional neuron” that mimicks the functions of a human nerve cell.
The “organic electronic biomimetic neuron” combines a biosensor and ion pump. It senses a chemical change in one dish and translates it into an electrical/ionic signal that travels along an “axon” to a “synapse” and releases chemical signals in another dish, that then trigger another neuron, etc.
Such a device could eventually be miniaturized and implantable, says lead investigator Agneta Richter-Dahlfors, Karolinska Institutet professor of cellular microbiology. The research objective: improve treatments for neurological disorders, which are currently limited to traditional electrical stimulation.
This strikes me as being potentially useful for HSP.



Paralyzed men move legs with new non-invasive spinal cord stimulation

Five men with complete motor paralysis were able to voluntarily generate step-like movements thanks to a new strategy that non-invasively delivers electrical stimulation to their spinal cords, according to a new study funded in part by the National Institutes of Health. The strategy, called transcutaneous stimulation, delivers electrical current to the spinal cord by way of electrodes strategically placed on the skin of the lower back.

“These encouraging results provide continued evidence that spinal cord injury may no longer mean a life-long sentence of paralysis and support the need for more research,” said Roderic Pettigrew, Ph.D., M.D., director of the National Institute of Biomedical Imaging and Bioengineering at NIH. “The potential to offer a life-changing therapy to patients without requiring surgery would be a major advance; it could greatly expand the number of individuals who might benefit from spinal stimulation.

This also strikes me as being potentially useful for HSP.


Nike Launches Flyease, Changing The Game For People With Disabilities

For college sophomore Matthew Walzer, simply putting on his shoes was an impossible task. Lacking the dexterity to get his foot in and out of his shoes, the Florida teen, who was born with cerebral palsy, had to enlist the help of his mother and father or others. While he could dress himself, Walzer, 19, told The Huffington Post, “shoes were the one issue” he had learned to deal with and accept.
So he decided to do something about it. Walzer, then in high school, sent a letter to Nike, first reaching out in 2012. His letter ended up in the hands of Nike CEO Mark Parker, who in turn passed it along to Tobie Hatfield, the company’s senior director of athlete innovation. Coincidentally, Hatfield had just embarked on his own journey to explore what Nike could do to help athletes facing physical challenges as well as the Challenged Athletes Foundation.
What resulted in the three years since was a partnership between Walzer and Hatfield’s team at Nike that culminated Monday with the company's unveiling of the Zoom Soldier 8 Flyease. The shoe is the first of its kind for the company, and perhaps any athletic brand specifically designed and dedicated to help those with disabilities and difficulties of buying and wearing shoes. It will be available July 16 in limited quantities at Nike.com for North America.
“It’s basically kind of kickstarted a lot of work in this area,” Hatfield said of the shoe and the company’s hopes to continue innovating. “Once you start down this road, I don’t know how you could ever go back,” he said.
Whilst I've not yet had to deal with clothes issues, I already notice rapid wear on my shoes, and it makes me wonder if this focus might end up with there being some relevant clothing for those of us with a spastic gait.



Sunday, 9 August 2015

AGM2015: Potato Pants - Ian Bennett

The last part of the AGM was from Ian Bennett, who had been to an HSP meeting in Madrid. There were representatives from 9 HSP groups there, 7 from Europe as well as from Australia and the USA (and apologies from 2 more European groups). The meeing was at the Euro-HSP GA and AGM. You can read about the meeting here: http://eurohsp.eu/events-meetings/past-events-meetings/ga-2015/record-of-the-meeting.aspx

The meeting was talking about the various HSP groups joining forces and being able to form international groups, effectively enabling an international research alliance. Readers who are members of HSP support groups who wish to be considered for research programmes should make their group aware of this (whenever these have been discussed before, people would find out the details of the trial and be able to make a decision whether to participate or not. If you're not on the list then you wont be asked.....)

From the record of the meeting I copy-and-paste the part about setting priorities for the groups moving forward collaboratively/together:

Setting Priorities- the leader from each group nominated what they believe to be the most important mutual priorities emerging from the meeting. The most commonly mentioned priorities are:
  • supporting the development the global HSP registry with a view to successfully staging phase III clinical trials in the future
  • developing a common symbol/logo for HSP globally, that will signify alignment and collaboration between national support groups, and help present a unified face to external key stakeholders such as clinicians, researchers, regulators, relevant government and non-government bodies, the pharmaceutical industry, the global HSP community, and to the public at large
  • investigating taking on a new and different role in attracting funding.

These seem like a really good set of priorities!

The other part of the meeting which Ian talked about was the Potato Pants campaign....

You can see here a video of Lori Renna Linton describing how HSP has affected her, and how she described to her daughter that trying to walk with HSP is like having 10kg of potatoes on her legs. This was something which had to be tried at home, and after that a school set the challenge....
https://www.youtube.com/watch?v=56XdjtrpZlo

You can see the event in the school (in Austria) here where the runners have special "potato trousers". They then chose to issue the challenge to two other schools....
https://www.youtube.com/watch?v=K80Q8BnU-V0

When I watch the video of the event I can see that there are indeed some similarities between these runners and how I see people move with HSP, so actually the 10kg of spuds (=potatoes) is a good description.

Why was this discussed at the meeting? - Firstly the event at the school raised 6000 euro for HSP, which is a great amount, and the nominations out to other schools is like the ALS ice bucket challenge from last summer. The questions are: Could potato pants be a global symbol for HSP? - and following that can we make this into an awareness/fund raising challenge like the ice bucket challenge?

Its a couple of months now since the UK AGM and I'm kind of drawn also to the idea that this could also be an educational thing as well. Like in ante-natal classes they sometimes get the dads to strap on a false tummy with (the equivalent weight of) a fully developed baby etc. inside. Could this be a STEM style activity? http://www.stemnet.org.uk/

I need to put the how could we fund raise from this into some more thought - its very easy and video friendly to get a bucket of iced water thrown at you, but more of a challenge to get some extra weight in your trousers and show. Thinking caps on.....................
 

Saturday, 18 July 2015

AGM2015: Insights into HSP from Drosophila - Dr Cahir O'Kane

Dr Cahir O'Kane works at the Department of Genetics at the University of Cambridge.

Dr O'Kane's talk was around the study of HSP in Drosophila - also known as fruit flies. The first aspect was why do we do this. Firstly, they have a short development period, going from egg to adult in around 10 days. Also they are small, so one wall of the room at Cambridge can hold 15,000 flies. They have 4 of these rooms and there are several groups working with these flies.

Flies and humans had a common ancestor with humans around 600 million years ago, which means that flies share about 80% of their genes with us, including the HSP genes. The team are able to breed paraplegic larvae, and as they age they lose the ability to climb. You can see this here: http://labs.cellbio.duke.edu/kinesin/WTKHClarvae.html.

These flies have axons in a similar way to humans. Nerve fibres or axons are typically up to 10,000 times longer than a cell body, and cell engineering is needed to maintain the axons. In HSP the longer axons breakdown first.

We have around 20,000 genes and the fly has around 14,000. Over 70 HSP genes have been cloned, and more continue to be found, around one every couple of months. Each gene disrupts a particular protein. Figure 2 here http://sp-foundation.org/file_download/510e252f-c9ec-484c-a90b-8f95372a499f shows which HSP genes affect which parts of the nerve fibre. Within this figure tubular endoplasmic reticulum (ER) can be seen, which forms a network within the cell.  The axons in the fly have a similar ER shape.

Some of the HSP proteins have roles in the integrity of axonal ER in any organism. The research on the flies shows that if a fly is bred with the removal of one of the SPG/HSP genes there are mild effects, and with the removal of multiple HSP genes the ER becomes fragmented - and the nerve no longer functions as intended.

What does the future hold? It is possible that the functions of axonal ER could be altered by drugs, however at the moment it is not known which of these are important to maintain the axon.

The researchers have shown that it is possible to genetically reverse HSP in flies, but they are some way off being able to do this in humans in the embryo. The two of the issues putting this into practve are that there is a much larger risk of miscarriage, and that this is prevented by biomedical regulations (ethics). The researchers dont know all about neurons yet - if the letters in the DNA were printed in a book the human genome would take around 2000 books to print it all. Each gene within the DNA is several thousands of letters in length.

Dr O'Kane mentioned the Tom Wahlig Foundation (http://www.hsp-info.de/en.htm) who research HSP and promote an international network of HSP researchers.

Tuesday, 14 July 2015

AGM2015: The differences between pure and complex HSP - Prof Henry Houlden

Professor Henry Houlden works at the National Hospital for Neurology and Neurosurgery, in London. His presentation covered three areas:

  • The differences between pure and complex HSP
  • Genetics and genetic testing
  • Shared network and genome sequencing 
Prof Houlden reminded us that HSP is generally described with increased stiffness, muscles becoming weaker and a slow progression. For pure HSP the three main areas are legs, bladder and the back. Pure HSP can also affect spasticity in other areas (including the upper body), but if there are other symptoms present then this becomes complex HSP. There is some variation in what symptoms might be expected, but these might include balance. A few videos were then shown with some examples.

If there is not a clear family history then an MRI scan of the brain and the spinal cord can help the diagnosis. For example, if there are some symptoms and compression in the spine this is not HSP and can be treatable. If the initial scan reveals that HSP is a contender, then blood an be sent for genetic testing, and tests on parents/siblings (etc.) can help in a better identification.

The scan would also show up the corpus callosum (a thick band of nerve fibers that connects the left and right sides of the brain allowing for communication: transfer of motor, sensory, and cognitive information). A thin corpus callosum occurs in some complex forms of HSP. For patients with complex HSP a repeat scan every 5 years would help to measure progress/change over time.

Some patients also experience problems with their feet - for example blisters and high arches (blisters can be a problem for people with HSP and diabetes http://www.nhs.uk/Livewell/foothealth/Pages/Diabetesandfeet.aspx) Examination of these can lead towards a diagnosis.

Prof Houlden indicated that about 30% of HSP diagnoses are not genetic. Simply, not all of the genes which cause HSP have been identified yet. There are some 25,000 genes in the body, and currently (Feb 2015) 74 different HSP genes have been identified. Getting the correct diagnosis can give you confidence - there is confirmation of what you have, and the course of can be anticipated - including potential complications. 

The most common pure HSP types with dominant inheritance are SPG4, which accounts for about 40% of cases, SPG3A which accounts for some 2-3% of cases and SPG 31 which accounts for some 1-2% of cases. The most common complex HSP types are SPG11, SPG7, KIF5A (also known as SPG10) and SPG 35. Prof Houlden did not give prevalence information. 



Types of HSP which have a dominant inheritance pattern carry a risk of 50% of passing HSP to the next generation (assuming only one parent carries the gene). Each child has an equal risk of inheriting the gene. For types of HSP which are recessive, the risk of passing the gene to the next generation is tiny, unless both parents are from the same family. Tests can be done prenatally, by CVS (Chorionic villus sampling) at about 10.5 weeks or by amniocentisis at about 16 weeks - however both tests carry risks of miscarriage and/or infection. Alternatively, Pre-implantation genetic diagnosis can be used (like IVF) to check, however this needs funding and the permission of your GP.

Prof Houlden then talked about management of HSP, by reference to Spastin (SPG4). The main points were:
  • Physiotherapy and orthotics
  • FES (functional electrical stimulation)
  • Baclofen
  • Self catheter and Detrusitol (noting Detrusitol works best if the bladder empties fully)
  • High walking sticks (these result in a more upright walking position)
  • Hip and knee replacement later in life.
On FES, it was observed that relatively few people were using FES 3-4 years ago, and the uptake of this has increased more recently. FES is available for HSP in London, Sheffield and Salisbury.

Prof Houlden talked briefly about bowel issues. The effects are not predictable, and this cannot be used in differentiating between pure and complex HSP. Bowel issues can usually be treated.

Prof Houlden then talked about a potential link between HSP and dementia. There can be some cognitive problems later in the progression of HSP, including SPG4. Sometimes the brain has to focus on walking which it does at the expense of other processing. These problems may also occur as a result of fatigue - which increases as it becomes harder to do more, or they may be a side effect of medicaiton being taken. If there are mental problems with HSP then tools to help cognition may be of limited benefit. In this case it is better to treat the condition.

 A European HSP network is (being) set up, with the objective of sharing information, particularly clinical problems, databases of patients and blood/MRI results. This can help research and the treatment of HSP. The network is looking for biomarkers for HSP which could track the progression of HSP, the effects on bones and/or the benefits of drugs. There is more on biomarkers here: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078627/. The shared database of patients can be used to help find candidates to take part in drug trials. It is likely that drug trials will be targeted to specific genes, and it becomes necessary to find a sufficient sample to determine the benefits of the drug.

Lastly, Prof Houlden covered getting access to services. Your GP is able to give a referral, and appointments can be booked using the choose and book system. He advised seeing a specialist in clinic once every few years, noting that it can be difficult for a local neurologist to be knowledgeable of rare diseases, but there is more money available for rare diseases at the moment, and this is leading to increased awareness.

Saturday, 13 June 2015

UK Support Group 2015 AGM

In one weeks time it will be the UK HSP Support Group AGM in Leamington Spa. I'm looking forward to going and getting some first hand updates on whats going on.

There are two presentations this year:

Prof Henry Houlden - The National Hospital of Neurology and Neurosurgery: The differences and management of pure and complex HSP, Research and network update

Cahir O’Kane – Reader in Genetics – University of Cambridge

Obviously I'll put blog posts up on these after the event. Also a good opportunity to catch up with people. I've also nominated myself to go on the Groups' committee.....

Thursday, 4 June 2015

100,000 genome project

I saw new reports the other month about the 100,000 genome project in England.

Genomics England are embarking on a project to decode and store the complete genomes of 100,000 people in England for the NHS (National Health Service). The project is set to leave a legacy for patients, the NHS and the UK economy. The project focuses on rare disease, cancer and infectious disease, and so it got my attention. You can read details here: http://www.genomicsengland.co.uk/the-100000-genomes-project/

I had a look at this in more detail, and you can find that HSP is already listed as one of the rare diseases which they are planning to cover in the project. The list is here: http://www.genomicsengland.co.uk/nominating-a-disease/

11 Genomic Medicine Centres (GMCs) have been set up to deal with the project. People who want to take part should be referred to GMCs by their clinicians.

Interestingly the list of GMCs for rare disease includes the East of England NHS GMC led by Cambridge University Hospitals NHS Foundation Trust. This is one of the key HSP research locations in the UK.

The site indicates that you are unlikely to be considered to take part unless you are already being cared for at one of the GMCs, which means that its people being seen in Cambridge who have the best chance of taking part. Also, the best chance for taking part is someone who has NOT yes had a genetic test undertaken.

So, it looks like I don't need to see about putting HSP forward for consideration in the list. I had thought about volunteering to take part, but seeings as I have already got a genetic test result and I'm not being cared for at Cambridge, its unlikely that I'd be considered for this.

Anyone reading who is being cared for at Cambridge and has a provisional diagnosis of HSP (or other diagnosis without genetic tests) then they are likely candidates and should talk to their clinician if interested in taking part.

Sunday, 17 May 2015

Recent Research Papers

Having recently been alerted to the Ampyra/Dalfampridine story, I wondered if I was missing out on anything else. I used the http://www.ncbi.nlm.nih.gov/pubmed?term=((hereditary%20OR%20familial)%20AND%20%22spastic%20paraplegia%22)%20or%20%22strumpell%20lorrain%22 link to get my results and simply browsed interesting titles. The following is an overview of 10 interesting papers which I found, and why....

1) A treatable mimic of HSP

This paper from the Neurology Unit at the UK University of Sheffield reports a condition that is more rare than HSP - Cerebrotendinous xanthomatosis - which can cause spastic paraplegia. The condition is treatable with chenodeoxycholic acid if diagnosed in the early stages. The researchers hope that genetic sequencing may identify people earlier and allow treatment. It is not clear from the abstract if the person had been diagnosed with HSP, but I infer this from the title. I wonder if this might open up further potential for treatment for HSP?
http://www.ncbi.nlm.nih.gov/pubmed/25862734

2) Ampyra/Dalfampridine

No surprises to find this paper again.  This paper from the neurology unit at CHRU de Besancon in France showed that half of HSP patients in a trial responded favourably to treatment with Dalfampridine with improved walking. Another potential treatment for people.
http://www.ncbi.nlm.nih.gov/pubmed/25808501

3) Intrathecal Baclofen

Two papers report improvements in walking from HSP patients from the use of intrathecal baclofen. The first paper from the University Medical Center Groningen, in The Netherlands reports one patient who had improvements in walking from the use of both a test implant and a baclofen pump. The paper recommends the use of the pump for people who do not respond well to oral tablets. The second paper from the University of Athens Medical School, in Greece reports improvements in all 14 patients in the study which lasted on average for about 2 years. These patients had not responded well to oral tablets. The paper reports that intrathecal baclofen can improve walking/spasticity but that the improvement might be limited by either of the residual motor function or the patient continuing with their rehabilitation programme.
http://www.ncbi.nlm.nih.gov/pubmed/25626112
http://www.ncbi.nlm.nih.gov/pubmed/24973568

4) Robotic Gait Training

Two papers present improvements in gait obtained by robotic training. The first paper, from the University Hospital of Pisa in Italy reports that 13 patients with uncomplicated HSP got improvements in gait/walking and balance after a 6 week robotic gait training programme. The benefits were maintained at a re-test 2 months later. The recommend that robotic gait training is considered in exercise routines. The second paper, from Seoul National University Hospital in Korea reports that one patient improved walking speed and balance after a 6 week programme of robotic gait training and physiotherapy. They note that whilst speed and balance improved the gait itself did not (kinematics and kinetics).
http://www.ncbi.nlm.nih.gov/pubmed/25547770
http://www.ncbi.nlm.nih.gov/pubmed/25255290

5) Pelvic Floor Training

This paper, from the University of São Paulo in Brazil reports one woman with HSP who had bladder and bowel complaints, pelvic pain and pain during intercourse. A course of perineal and pelvic floor stretching was developed which resulted in less pain and improvements in bowel and bladder function.
http://www.ncbi.nlm.nih.gov/pubmed/25478261

6) Botox

This paper, from the Radboud University Medical Centre in The Netherlands reports that 15 patients with HSP were given a course of Botulinum toxin type-A in their calf muscles together with daily calf muscle stretching over 18 weeks improved walking speed and muscle tone. It is not clear from the abstract which was deemed to be more important - the Botox or the stretching.
http://www.ncbi.nlm.nih.gov/pubmed/25325386

7) Gait Variation

This paper, from the Geneva University Hospitals in Switzerland reports a gait analysis of 6 patients with HSP from the same family, with a follow up between 4 and 15 years after. Their analysis shows that there is a large variation in walking ability within one family (the inference is that they all have the same type of HSP). Over the period of the study three of the patients had improved their gait (from childhood) and three had worsened (within adulthood). There was no statistical difference between the sets.
http://www.ncbi.nlm.nih.gov/pubmed/25218933

8) Stem Cell Research

This paper, from Germany & USA, describes that stem cells derived from normal adult cells have been shown to have some relevance to HSP - potentially allowing a model of the neurons.
http://www.ncbi.nlm.nih.gov/pubmed/24821704

9) Temperature Effects

This paper, from the USA, describes that drosophila (fruit flies) with HSP have improved mobility and survive longer when reared in colder temperatures. They suggest that mild hypothermia might hold promise as a therapeutic approach for HSP. I note, however that many people complain that HSP appears worse in the cold.
http://www.ncbi.nlm.nih.gov/pubmed/24906373

10) Japanese Research Group

I note this paper, from Japan, simply because it was produced by the Japan Spastic Paraplegia Research Consortium (JASPAC). I wasn't aware of JASPAC previously, and this simply puts me on a mission to try and find out more about what they are doing. There are also other papers above from areas of the world which I've not seen before in HSP reporting, again opening up further investigation.
http://www.ncbi.nlm.nih.gov/pubmed/25296875

Friday, 8 May 2015

Exercise Routines

I've been doing my stretches now for just over 3 months. The main thing to report is that my hamstrings are getting longer. I cant touch the floor with my fingertips yet, but I'm much closer now than I have ever been able to (well, since childhood, I dont remember if I was able to do this as a small child.....)

This is quite a pleasing result in itself, and shows that the advice from my physio is good - as this was one of the aims. I'm looking at this with the following perspective - improvement in movement now helps slow HSP's trajectory down.

Back in the past (before we had children) I used to go to the gym regularly, and I did regular stretches there too. I didnt notice any lengthening of my hamstrings there (went a couple of times a week for a few years). The main difference is that I've had precise advice about this, although stretches that I used to do are similar to those now, and that I'm now doing this twice a day. Perhaps its the twice-a-day part, perhaps I'm holding them for longer now. I'm not sure.

On this topic there was a link on one of the Facebook groups to the Australian HSP site with a letter from Dr Fink, which was posted in February this year.

I quite like the general concept of this. I'll simplify the whole thing into a couple of points:

  • Find out what makes walking difficult. Get advice on how to improve this.
  • Frequency of exercise is as important as what you are doing
  • Stretching, balance, core exercises, and aerobic conditioning are all important.
  • You should expect some improvement

Reviewing what I do against this, its all there - I get balance/core from Pilates and aerobic from cycling to work.

The full letter is copied below, and you can read it in the context of the site here: http://www.hspersunite.org.au/exercise-in-hsp/:

Hello everyone,

As requested, this is a brief overview of my recommendations for exercise in HSP and PLS (Primary Lateral Sclerosis). One caveat: my recommendations are not based on scientific research of exercise methods in HSP and PLS. These recommendations are based on talking with many individuals with gait disturbance and finding what seems to be helpful.

Identify the factors that make walking difficult. HSP and PLS affect walking differently in each person. For some individuals, spasticity (affecting hamstrings, quadriceps, adductors, “heel cords” in variable proportion) is the major problem. In other individuals weakness (hip flexion, foot dorsiflexion, hamstrings for example) or endurance is the major problem. Often weakness (in certain muscles more than others) and spasticity (in certain muscles more than others) occur together (in variable proportions) with balance difficulty and slowness in muscle activation.
Consultation with a neurologist, physiatrist, physical therapist, personal trainer are often helpful in identifying which factors are particularly problematic. This is the basis for developing a function-specific exercise program.
The basic concepts are to

a) find the problems,
b) address the problems specifically both as isolated exercises and importantly, through complex task-based exercises;
c) keep score of your progress,
d) when tasks become easier, change the routine to make things more challenging;
e) expect improvement (recognizing it will be slow);
f) core muscle exercise and aerobic conditioning are key.

Here are a few notes:

Develop an exercise program that:

a) “starts low and goes slow” (begin with something you’re capable of and increase the frequency and intensity by approximately 10% each week)
b) is graded (increasing intensity and frequency)
c) is monitored (by you, keeping track of performance, and by your therapist or trainer)
d) addresses the function-specific goals
e) is varied (monotonous routines are difficult to maintain)
f) has days off each week where other exercises are performed
g) ideally is done with exercise partners (activities that are performed completely alone are difficult to maintain).

Both complex/contextual exercises (e.g. climbing gym, water aerobics, kicking a weighted ball) and isolated exercises (leg lifts, abdominal exercise “crunch” machine at the gym) are useful.

In my view, the value of stretching, balance, core exercises, and aerobic conditioning can not be overstated and should have a central place in the exercise routine. In my opinion, “exercise frequency” (4 to 10 times a week) is at least as important if not more important than the intensity of a given exercise period.

I hope this is helpful.

Sincerely,

John

John K. Fink, M.D.

Thursday, 23 April 2015

Another Physiotherapist Visit

Recently I had my third trip to the physiotherapist. This is my last appointment for a while. I've got an "open appointment" (which means that I can get in quickly if there is a dramatic change), and another "normal" appointment booked in for three months time.

Since my previous appointment I've been trying hard to get that elusive second set of stretches in, which I now do by getting up a few minutes earlier each day and doing them first thing. I'm currently limiting these to my hamstrings as these are the muscles which get the least stretching in my day-to-day life, but I also realise I'm being a bit stubborn and I'll probably get the calves and roll-downs added in soon too.

Effectively, its a question of trying to introduce stretches into everyday life, so my stretching/exercising changes are:

  • Stretches in the morning (as described above)
  • Raising up onto my toes when cleaning teeth (to exercise calves)
  • Changing the way I pedal my bike to exercise calves
  • Checking my posture to make sure I'm sitting more upright
  • Checking my leg position when sitting so they are not tucked under (hamstrings)
  • Standing with my feet apart sometime to stretch my hip adductor's 
  • Improving my posture when making cups of tea at work (hamstring stretch)
  • Lowering ironing board height when ironing to get hamstrings to stretch.
  • Stretches in the evening
  • Laying with my legs apart in bed some of the time to stretch my hip adductor's
 Has this made any difference? This is a difficult question to answer. I think that I have managed to get my hamstrings to lengthen a bit, but I dont really know for sure about anything else. But, this is the "new" life I lead, and I wont know how much these exercises will slow HSPs trajectory down.

But, I do know that my cycling is becoming very important. We recently had the school easter holidays, where I spent time with my family instead of cycling to work. I didnt realise how much stiffer I had become over this short time until after I did my first set of evening stretches after my first cycle to/from work. The stretches were so much easier after this. It makes me think that keeping active is the key to this, and I must try to make an effort to get some exercise in on days when I dont cycle to work. My physiotherapist thought that cycling was good because it is repetitive.

One other development is that I am now the proud owner of one UNS (universal night split). I have one of these: http://www.completecareshop.co.uk/orthopaedic-aids/night-splints/universal-night-splint-large

The job of the UNS is to hold the foot so that a long term gentle stretch can be given to the foot muscles. I am to to trial this between now and my next physio appointment. In the ideal world I would wear this for 6 hours a day on each foot - but I dont have time for that! Whilst the website indicates that this can be worn at night my physio advises that this should be worn in the day. The agreed trial is to wear this for an hour a day on each foot, and to adjust so that I can feel the stretch. I have noticed that when in bed and laying on my back my feet tend to point away rather than up, so this is a good stretch to do, being against what my feet are wanting to do.

The main problem with the trial is finding 2 hours a day when I am sitting down at home able to do this. I work from home one day a week, and that is easy, and I can grab the odd half an hour here or there when watching the TV or writing this blog (have just swapped from right to left foot!). This means I'm perhaps getting a few hours each week rather than an hour a foot per day. Effectively, without making "drastic" changes at home, I'll only be able to get this length of time using the UNS at work, although that might have a few health and safety consequences!

Outcomes from the trial may be continued use, or to stop using for a while, or to only use when needed. Update in 3 months!

The final observation for the day is that my UNS is indeed an Ankle-Foot-Orthotic or AFO, so in the autumn I'll have to answer my mobility question differently when I get my survey up and running!

Wednesday, 8 April 2015

New study of Dalfampridine/Ampyra for use with HSP

There has just been a new study published which shows that Dalfampridine/Ampyra/Fampridine has use as a treatment for HSP.

The abstract is:
Dalfampridine in hereditary spastic paraplegia: a prospective, open study.
Béreau M, Anheim M, Chanson JB, Tio G, Echaniz-Laguna A, Depienne C, Collongues N, de Sèze J of the Département de Neurologie, CHRU de Besançon, Besançon, France.

Our aim was to support the use of dalfampridine as a treatment for patients affected with hereditary spastic paraplegia (HSP). We performed a prospective, uncontrolled, proof of concept, open trial. We included 12 HSP patients defining the total group (TG) who received dalfampridine 10 mg twice daily for 2 weeks. Efficacy assessment was based on walking ability improvement. The Timed-25-Foot Walk Test, the Spastic Paraplegia Rating Scale (SPRS), and the 12-item Multiple Sclerosis Walking Scale (MSWS-12) were performed before and after treatment. Safety assessment was based on adverse events occurrence. A significant improvement in SPRS (p = 0.0195) and MSWS-12 (p = 0.0429) was noted after treatment in the TG. No serious adverse events were noted. This interventional study provides encouraging results supporting the use of dalfampridine in HSP.

This is an electronic publication ahead of the March edition of the Journal of Neurology.

http://www.ncbi.nlm.nih.gov/pubmed/25808501
http://link.springer.com/article/10.1007/s00415-015-7707-6

This paper is reported here:
http://www.medpagetoday.com/MeetingCoverage/AAN/45552
which reports:


  • 12 patients with HSP were given the drug -- at 10 milligrams twice a day -- for 15 days.
  • 50% of patients (6) improved on 3 measures of walking ability
  • The improvements were clinically meaningful as well as statistically significant
  • The drug was well tolerated and would likely be without significant adverse effects for an even longer treatment period.
  • There is almost no carry-over effect: "If you stop the drug, one day later there is no effect."
  • The drug is currently approved for use in multiple sclerosis

  • Within my HSP survey I had one respondent who was taking this drug for HSP, who indicated that this was being taken to improve gait, and rated this medicine as 5 out of 5 for benefits and would recommend to others.

     

    Friday, 20 March 2015

    Reflections on 2014 Survey Results

    I was asked my thoughts on my recently published survey results.

    The thing which I have found most surprising is the lack of evidence of the benefits of the more common medications for relieving HSP symptoms, particularly Diazepam and Gabapentin (1 paper only each) and Tizanidine, Amitripyline and Pregabalin (no papers). 

    There is some indication that medication for spasticity from MS and Parkinsons can help with HSP, but again there is no evidence. 

    I’m also surprised at the supplements that people take, there were plenty of people taking one or more dietary supplements without being sure that there was any benefit from doing so. 

    Overall, there is little evidence to help people make choices about medication and supplements. 

    I’ll put the caveat in that my search for papers was 'only' from the PubMed website (http://www.ncbi.nlm.nih.gov/pubmed) using keyword searches. There may be other papers out there covering these issues which I don’t know about, in which case I’d be pleased to pointed in other directions......

    Sunday, 8 March 2015

    A trip to the physiotherapist

    I have now been to see a Neurophysiotherapist twice, with another appointment in a month's time.

    I noted down what I was told in my notebook, which was just after my notes from my appointment at the HSP clinic last year. Here I found out that physio is a good thing to do. Muscles need working on daily in order to slow down HSP's trajectory, and that physio has the same objective as baclofen.

    My first appointment showed that I have similar tightness in both legs, that my range of movement is good in that I can hold at the limits of the range and move through the range. I have a touch more clonus in my left leg than my right leg. My sensation is OK. We didn't discuss pins and needles as these are transient. I didnt realise I had any clonus, so I need to look into that!

    There were 8 things for me to concentrate on:
    1. When sitting, make sure I don't tuck my legs in. My foot should be flat on the floor.
    2. Calf stretches twice a day, 30s at a time
    3. Hamstring stretches twice a day, 30s at a time
    4. Flex my toes up to strengthen my shins
    5. Raise myself up onto my toes to strengthen my calfs
    6. Stand with my toes on a step and lower my heels to stretch my calves
    7. Lift the outer edges of my feet to help increase range of motion
    8. Concentrate on my posture, keeping up straight.
    The advice was to try and integrate as many of these into my normal routine as possible, which makes doing them as easy and straightforward as possible.

    The first I found easy, and I hadn't realised how much I was tucking my feet under. I started doing one set of stretches just before bed, but found it difficult to find the time to get a second set in. The other points didn't get much of a look in.

    In terms of stretches, my calf stretch was a lunge, concentrating on keeping my heel on the ground, my leg straight and my bum down. I prefer to do this leaning against a wall (like this: http://ryanchiropracticpllc.com/resources/stretches/calf-stretch/). My hamstring stretch was to raise my foot up on to a chair (actually chose bed rather than chair) and to concentrate on keeping my leg straight. (like this: http://www.topendsports.com/medicine/stretches/hamstring-standing.htm)

    As I have been doing these things I have noticed that my muscles feel like they have been doing some exercise most of the time, which shows that my legs are being worked more than they were before.

    Given that I go to Pilates once a week and am regularly cycling to work we didn't look at core strength or general levels of activity. For readers, the advice on hamstrings and calfs applies to everyone!

    My second visit was about a month later. We talked about how I had been doing, and I explained that it was difficult to find the time to fit all of these things into my routine. I sought information on how often and for how long I needed to be doing these things.

    The detailed points become:

    1. Dont tuck legs in: no change.
    2. Calf stretches: Variation, alternate between doing legs individually and both legs together.
    3. Hamstring stretches: no change
    4. Flex toes up: no new info.
    5. Raise onto my toes: do whilst cleaning teeth (couple of mins, twice a day)
    6. Stand on step and lower heels: didnt discuss
    7. Lift outer edges of feet: didnt discuss 
    8. Concentrate on my posture: no change
    In addition, we talked about:


    We tried out a Theraband/Pilates band and that can be another way to stretch/flex muscles. I have one to try, for example http://www.easyvigour.net.nz/fitness/h_Hamstring_Stretch.htm. We also discussed a universal night splint (or UNS) as a way of getting my ankle to stay at 90 degrees, and although the discussion started as something for the future, I'll be getting one to try at my next appointment.

    Since this second appointment I've been trying much harder to get a second set of stretches in each day, which is a bit of a challenge. So, I've been trying to do a set when I get up, and I manage this most days. It is clear that my muscles are much tighter in the mornings. I've been raising myself up onto my toes when I'm cleaning my teeth and raising the outer edges of my feet wherever possible. Also, whenever I'm sitting on the floor I'm trying not to sit on my knees because that is my hamstrings at their shortest and I'm trying to get my legs out straight, so there is some re-jigging there as well. Actually this happens quite a lot (reading stories to children at bed time, playing Lego/cars/trains/etc, sorting laundry etc.) I'm prefering to do my hamstring stretches standing rather than sitting on the floor, and I need to try and bring some variation into the mix.

    I also told my Pilates instructor about my hamstrings being short so that she can give me advice about if I need to do any of the exercises differently. For example, my Physio suggested that I should perhaps use a stool/step instead of kneeling for some exercises, which I had been doing as it is very difficult for me to get an upright neutral back whilst sitting with my legs out straight in front of me.

    Saturday, 28 February 2015

    2014 Survey Results

    So, it is rare disease day again. I am pleased to publish the results of my second HSP survey which I launched in September. Many thanks are due to the 97 people who gave their time and completed the survey - this wouldn't have been possible without you.

    The full analysis can be found here: https://drive.google.com/file/d/0BzEoTkR5HCWhbEJMcVZncFNGV00/view?usp=sharing

    Here is a short version of the 2014 suvey results....

    This reports my analysis of the results of an on-line survey for people with HSP launched in September 2014. There were 97 respondents who completed the survey, predominantly from the USA and the UK.

    Mobility Analysis
    All 97 respondents gave answers to this question. Around half of respondents use walking sticks/poles/crutches/canes and around two fifths of respondents use a wheelchair or mobility scooter. FES is the mobility aid used by the least number of people, with a take-up of around 5%.

    The results also allow the distribution of respondents within a scale of mobility which I devised last year. This is an “HSP mobility score” which allows me to cross-reference mobility against the other questions in the questionnaire. The definition of the HSP mobility score is;
    1. No mobility effects
    2. Can walk without aids but some effects
    3. Orthotics/AFO/FES and/or Sticks/Poles/Crutches/Canes some of the time
    4. Sticks/Poles/Crutches/Canes and Frame/Chair some of the time
    5. Sticks/Poles/Crutches/Canes most of the time
    6. Sticks/Poles/Crutches/Canes all of the time
    7. Rollator/Walking frame most of the time
    8. Rollator/Walking frame all of the time
    9. Wheelchair/Mobility scooter most of the time
    10. Wheelchair/Mobility scooter all of the time

    Table 7 – Overview of mobility aids used
    Mobility Aids Used - Overview:
    Respondents
    Percentage
    Mobility Score
    Those without aids
    19
    20%
    0-1
    Those who use mobility aids some of the time
    24
    25%
    2-3
    Those who use sticks most/all of the time
    24
    25%
    4-5
    Those who use frames most/all of the time
    13
    13%
    6-7
    Those who use chairs most/all of the time
    17
    18%
    8-9

    Medication
    I wanted to explore which reasons people take which medicines for and how effective they perceive those to be. In total 91 respondents answered this question. There were 68 people who indicated that they took at least one medication and 23 respondents who indicated that they did not take any medication at all.

    Around three quarters of people are prescribed at least one form of medication for their HSP. Of the 23 who responded that they did not take any medication 10 indicated that they have not ever been on medication for HSP. The other 13 had previously been prescribed at least one medication, but no longer take any either because of side effects, because the medication was not effective or a combination of both. Naturally, readers should consult with their doctor if they wish to change their medications.

    The majority of respondents included which symptoms they took their medication for, as shown for symptom experienced by at least 10 respondents;

    Table 10 – Symptoms that people take medication for
    Symptom
    Number of medications taken
    Spasticity
    49
    Pain
    29
    Bladder
    22
    Spasm
    19
    Depression
    12
    Nerve Pain
    10

    Spasticity and Spasms
    Almost half of the medication being taken is used to treat spasticity and spasms, the key features of HSP. The biggest proportion of this group of medications comprises people taking Baclofen. The list of medications where at least 5 respondents are taking is shown in the following table, with descriptions of the medications taken from the UK NHS and drugs.com websites.

    Table 13 – Spasticity and Spasm Medication
    Medication
    Description
    People taking medication
    Baclofen
    Baclofen reduces muscle tone and unwanted muscle contractions. This helps to reduce painful muscle spasm.
    43
    Botulinum toxin A / Botox / OnabotulinumtoxinA
    Botulinum Toxin Type A is used to treat muscle spasms. It works by stopping muscle contraction in the muscle that it is injected into. This prevents muscle spasm. It also blocks pain signals, which indirectly block the development of a migraine.
    7
    Diazepam
    Diazepam is a medicine which helps to control feelings of anxiety. It makes people feel less agitated and less tense. It also acts as a sedative and an anticonvulsant. It can help to relieve muscle spasm.
    7
    Tizanidine / Zanaflex
    Tizanidine reduces muscle tone. This helps to reduce painful muscle spasm. The effect of Tizanidine usually lasts for a few hours.
    6

    Baclofen
    43 Respondents indicate that they take Baclofen for HSP symptoms. The symptoms, as described, fall into two areas, spasticity, with 31 respondents and spasms, with 7 respondents. 6 of the respondents indicate that they take their Baclofen through an intrathecal pump whilst the other 37 take tablets.

    In addition there are 26 other respondents who indicated that they have tried Baclofen in the past, but no longer take it, including 1 who used use an intrathecal pump.

    The 38 respondents who currently take Baclofen for spasticity and spasms cover the full range of mobilities. Daily doses range between 10mg and 180mg for oral tablets. Generally, the dose of Baclofen is higher with increased spasticity/loss of mobility, but there are exceptions to this trend both ways. 15 Respondents indicate that their dose has increased over the years, with 5 respondents indicating no change.

    31 of the 38 respondents who currently take Baclofen gave details of their side effects. 10 respondents had no side effects, 11 respondents found Baclofen made them sleepy or drowsy. The other 10 respondents indicated a range of side effects including bowel/bladder issues, dizziness, dry mouth, stomach ulcers, blood pressure issues and short term memory loss.

    Of the 26 respondents who indicated that they no longer take Baclofen, 19 indicated why they had stopped taking it. 9 respondents indicated that they did not perceive any benefits from the medicine, 3 indicated it made them too drowsy/sleepy with the other 7 generally noting side effects outweighing benefits.

    Most respondents indicated that the benefits of Baclofen have not changed over the years whereas other respondents were not sure if there had been a change. One respondent noted a “huge” difference moving from tablets to an intrathecal pump.

    Respondents showed that, on the whole, people currently perceive benefits from the medicine, it is important to them and they follow the prescribed dose. There are some respondents who take the medicine but who do not perceive any benefits. The majority of respondents who currently take Baclofen would recommend it.

    Baclofen is one of the recognised treatments for HSP. The first paper to mention the use of Baclofen to treat HSP seems to date from 1989, in the Journal of the Medical Association of Thailand (PubMed ID: 2738487). Papers continue to be published on this into 2015, with just over 20 papers altogether.
      
    Botulinum Toxin Type A
    7 respondents indicate that they take Botulinum Toxin Type A for treatment of HSP symptoms, predominantly spasticity but also spasms. This is commonly known as Botox, although there are several different types of treatment. For ease I will refer to this treatment as Botox in the remainder of this section. One respondent indicated that they have previously taken Botox but no longer take it because it ceased to be effective.

    All respondents who take Botox use mobility aids to some degree with mobility scores ranging between 3 and 9. Typically Botox is injected every three months and the effects are noted as lasting for between a few weeks and a few months. Side effects are generally not experienced, although one respondent noted weakness for around a week after injection. Apart from one respondent, Botox is perceived as having benefits and would be recommended to others.

    Botox is one of the recognised treatments for HSP. The first paper to mention the use of Botox to treat HSP seems to date from 2003, in the journal Developmental Medicine & Child Neurology (PubMed ID: 14667075). Papers continue to be published on this into 2015, with 4 papers altogether.

    Diazepam
    7 respondents indicate that they take Diazepam for treatment of HSP symptoms, predominantly spasticity but also spasms. No respondents indicated that they have previously taken Diazepam but no longer take it.

    All respondents who take Diazepam use mobility aids to some degree with mobility scores ranging between 3 and 8. Typically one dose is taken daily, often at night, although some take more frequently and less frequently than this. The principal side effect noted is sleepiness, by 4 respondents. Diazepam is generally perceived as having benefits and would be recommended to others.

    Diazepam is mentioned in one HSP paper from 1989, in the Japanese journal No to Shinkei - Brain and Nerve (PubMed ID: 2803825).

    Tizanidine / Zanaflex
    6 respondents indicate that they take Tizanidine for treatment of HSP symptoms, for both spasticity and spasms. 10 respondents indicated that they have previously taken Tizanidine but no longer take it, either due to side effects or to no perceived benefits.

    Most of the respondents who take Tizanidine are able to walk, with 4 having a mobility score 3 or less, with one respondent scoring 5 and one scoring 8. The principal side effect noted is tiredness or fatigue, by 5 respondents.  Those who currently take Tizanidine generally perceive it to have benefits. There are some reservations recommending it to others.

    Tizanidine is reported as having benefits for spastic paresis in 1982, in the Journal of the Neurological Sciences (PubMed ID: 7035623).

    Other Treatments (Fewer than 5 respondents)
    Of the other treatments for spasms and spasticity taken by respondents, only Levodopa is described as a treatment for HSP in the Movement Disorders Journal in 2006 (PubMed ID: 16463348). It is interesting to note, however, that Nabiximols/Sativex is reported to also control pain and has benefits on bladder issues, that Dalfampridine/Ampyra is reported to reduce fatigue and that Levodopa is reported to improve the control of muscles. One respondent indicated that they had a spinal cord stimulator implanted which was the biggest benefit they had of all.

    Pain
    Many people are taking a range of painkillers, some are over-the-counter medicines like paracetamol right through to strong opioid medication like morphine.  At least 5 respondents are taking antidepressant or anticonvulsant medication as shown in the following table;

    Table 16 – Pain Medication
    Medication
    Description
    People taking medication
    Amitriptyline / Elavil
    Amitriptyline is a tricyclic antidepressant. It is also a medication that is used in management of long term (chronic) pain, especially nerve pain. It can also be used for improving sleep. It is prescribed in low doses for managing pain and is not addictive. Amitriptyline is also used for the treatment of bedwetting in children
    6
    Gabapentin / Neurontin
    Gabapentin is an anti-epileptic medication, also called an anticonvulsant. It affects chemicals and nerves in the body that are involved in the cause of seizures and some types of pain. It is also used to treat restless legs syndrome (RLS).
    6

    Amitriptyline / Elavil
    6 respondents indicate that they take Amitriptyline for treatment of HSP symptoms including nerve pain, pain and restless legs. 1 respondent indicated that they have previously taken Amitriptyline but no longer take it,  due to trying a different medication at the moment.

    The respondents who take Amitriptyline include most of the full range of mobility, having a mobility score between 2 and 9. In terms of side effects, 4 respondents note no side effects with 2 noting tiredness. Based on the 6 respondents currently taking Amitriptyline, it is perceived as having benefits and would be recommended to others. None of the respondents indicated that they take Amitriptyline for bladder issues, but this medicine can be prescribed to treat bedwetting in children by helping the bladder wall to relax.

    Amitriptyline is not reported in any HSP papers.

    Gabapentin / Neurontin
    6 respondents indicate that they take Gabapentin for treatment of HSP symptoms, predominantly nerve pain and also pain. 7 respondents indicated that they have previously taken Gabapentin but no longer take it, 2 indicating because of side effects and 2 because of lack of perceived benefit.

    The respondents who take Gabapentin use mobility aids to some degree with mobility scores ranging between 3 and 8. In terms of side effects, all respondents note side effects including tiredness/drowsiness (5 respondents), dry mouth (1 respondent) and unpleasant dreams/thoughts (1 respondent). Based on the 6 respondents currently taking Gabapentin, it is generally perceived as having benefits and would generally be recommended to others.

    Gabapentin is reported in one HSP paper from 2007, in the European Journal of Neurology (PubMed ID: 17539946) although this indicates no difference in tests between Gabapentin and a placebo.

    Supplements and Diet
    Respondents were asked to give details of supplements that they take. 58 respondents answered this question. 6 of these indicated that they did not take any supplements and 52 indicated that they took at least one. Generally people take up to 3 supplements with a small number taking more than this.

    8 respondents are certain that they get benefits from taking magnesium to reduce spasms/cramps and to relax muscles, including bladder muscles. There is one paper which reports using magnesium glycerophosphate to reduce spasticity in paraplegia caused by MS (PubMed ID: 11136367). There were two respondents who were certain that taking cranberry tablets was beneficial in maintaining a healthy bladder.

    There was also a general question about dietary changes. 39 respondents have not made dietary changes and 32 people had made changes. There were 7 respondents who made changes due to bowel issues, with some adding more or cutting down on fibre and/or fruit/vegetables. One respondent avoids caffeine and alcohol due to bladder issues. Low/No gluten and carbohydrate diets are mentioned as giving benefits to several respondents, with one noting improved mobility on a gluten free diet and another noting reduced inflammation with a low carb diet. One respondent limits alcohol to assist with balance, and another notes caffeine and sugar make their symptoms worse. 7 respondents have just made general health improvements in their diet, including two partly as a result of weight gain from reduced mobility.

    It is worth noting that the Spastic Paraplegia Foundation website indicates that “There are no known studies indicating that vitamins or food supplements are an effective treatment for HSP.” (https://sp-foundation.org/understanding-hsp-pls/treatments-and-therapies/). Any readers wishing to make changes to their diet or to change any supplements being taken may wish to consult their doctor.

    Exercise and Relaxation
    The final section of the questionnaire looked at respondents exercise and relaxation routines. Overall 90 respondents answered this question. The following table shows the distribution of answers given.

    Table 17 – Exercise and Relaxation

    Stretches
    Yoga etc.
    Weights
    Power plate etc.
    Cardiovascular
    Walk/Run/Cycle
    Swimming
    Massage
    Aromatherapy
    Acupuncture
    Physiotherapy
    Chiropractic
    I do this several times a day
    8
    0
    0
    1
    1
    1
    0
    0
    0
    0
    1
    0
    I do this daily
    38
    8
    8
    2
    1
    15
    2
    1
    0
    0
    5
    0
    I do this weekly
    9
    5
    13
    4
    13
    17
    14
    9
    3
    2
    13
    1
    I do this monthly
    4
    2
    0
    1
    0
    1
    0
    10
    1
    2
    10
    1
    I do this occasionally
    17
    3
    13
    2
    8
    20
    23
    13
    3
    4
    10
    5
    I dont do this
    11
    55
    42
    61
    50
    24
    35
    42
    59
    63
    34
    62
    Total Answers
    79
    73
    76
    70
    72
    77
    74
    75
    66
    71
    72
    69

    This shows that stretches are the most common form of exercise being undertaken with over 85% of respondents doing this. Other activities which are commonly undertaken include weights, cardiovascular machines, walking/running/cycling, swimming and physiotherapy.

    Of the 90 respondents only 1 did not undertake any of the activities or indicate other activities. Respondents who undertake activities weekly or more frequently are grouped together as undertaking that activity “regularly”. Overall 71 respondents undertake at least 1 activity regularly.

    To look at this in more detail Yoga/Tai-Chi/Pilates, Weights, Power plate/circulation booster, walking/running/cycling, swimming and physiotherapy are grouped together as “exercise”. Overall 81 respondents undertake at least one exercise activity, and 66 of these undertake at least one of those activities regularly (weekly or more often). Grouping the other activities together shows that these activities are undertaken regularly, but the general take-up of the other activities is lower than the exercise activities.

    This information shows that for people who do not use mobility aids at all (mobility score 0 or 1) over 80% undertake at least one activity regularly. Activities are likely to include walking/running/cycling. Many respondents also do stretches and take part in swimming.  Other activities undertaken include physiotherapy, massage, yoga/tai-chi/pilates, weights and cardiovascular.

    Almost 80% of people who use mobility aids some of the time (mobility score 2 or 3) take part in at least one activity regularly. Activities are likely to include stretches and walking/running/cycling. Many respondents also take part in weights, swimming and physiotherapy.  Other activities undertaken include cardiovascular, massage and yoga/tai-chi/pilates.
               
    Three quarters of people who use sticks most or all of the time (mobility score 4 or 5) take part in at least one activity regularly. Activities are likely to include stretches. Many respondents also take part in physiotherapy and walking/running/cycling. Other activities undertaken include massage, swimming and weights.

    Two thirds of people who use walking frames most or all of the time (mobility score 6 or 7) take part in at least one activity regularly. Activities are likely to include stretches. Many respondents also take part in walking/running/cycling. Other activities undertaken include physiotherapy and weights.

    Almost 90% of people who use wheelchairs most or all of the time (mobility score 8 or 9) take part in at least one activity regularly. Many respondents take part in stretches. Other activities undertaken include swimming, physiotherapy, massage, weights, power plate/circulation booster and aromatherapy.

    Like this? in other years:
    Overview of all my surveys: http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html
    2016: Fatigue, bladder, bowel & information: http://hspjourney.blogspot.co.uk/2017/02/2016-survey-results.html
    2015: Modifications at home, depression, quality of life: http://hspjourney.blogspot.co.uk/2016/02/2015-survey-results.html
    2013: Symptoms and misdiagnosis: http://hspjourney.blogspot.co.uk/2014/02/hsp-survey-results.html