Wednesday, 27 December 2017

Review of 2017

As we draw to the end of 2017 it is time for me to reflect on this years goings on.


This year has seen less new knowledge going in, but there have been several times when I've needed to look back at knowledge gained previously, thereby fulfilling one of this blogs purposes: to act as a memory dump. During the year I've looked back on my posts on depression and my work on misdiagnosis. I've also been contributing to the knowledge of others in a new way by taking part in the HSP falls study for Plymouth University (UK) and the CREATE Daily Living Scale study.


Generally it has been another year of no significant change. I think that my distance may be becoming limited due to HSP, but I've not tested that properly yet. 2017 has seen the continuation of tracking my cycling with Strava and I've started tracking plenty of things with FitBit, so there is plenty of data for me to look at and see if I can spot any patterns. On the other side of the coin, during the year PatientsLikeMe changed their website so I've lost a couple of trackers I found useful there. The main 'big' thing this year has been the MRI scan, but nothing on the results of that yet.

This Blog

I'm really pleased with the continuing growth in readership of this blog! My audience remains broadly the same (predominantly US, UK, Russia, Ukraine, France, Germany, Canada). The most popular posts continue to be the results of my survey, the various presentations/posters given at meetings and my general posts on research and particular HSP symptoms. I now have a full year of Google Analytics tracking to compare with the blogger tracking, so expect some analysis on that in the new year! Various blog posts are being linked to and used within other HSP and RareDisease publications, so I feel like a bit of an information conduit now. Thank you to all my readers.

I've had various comments from people appreciating what I have to say, which I'm very pleased to receive. Feedback like this gives me another reason why this is a worthwhile thing to do. Thank you to anyone that makes a comment or connects up with me in some other way. A couple of my favourite comments about the blog from this years survey are:

"I'm interested to hear how you are progressing with symptoms as I feel like the only guy on earth that has this condition. Your blogs make me feel like I'm not alone"
"Great to read how you approach every day problems"
"It is superb and very informative - I have gleaned a lot of useful info over the past few months and hope to be able to put much of it into practice now I know what I am dealing with."


The now annual pattern of my surveys is well established. Each year I get more responses than previously, and this year is no exception. I've now got around 190 responses to start analysing in 2018, which is brilliant! If you're reading this and want to take part then (providing it is still 2017) please do! Results will be out on 28th Feb after the majority of analysis during January.

Similarly, its good to get feedback on this. Two of my favourite comments from this year are:
"I felt like your questions were right on target for capturing most of the issues I'm facing."
"It is nice to be asked relevant questions!"

Community Contribution

HSP Community activities for 2017 included:
  • Being elected chairman of the UK Support Group!
  • Taking part in research projects (as described above)
  • Starting to talk with people from other HSP groups
  • Convincing the UK HSP group to join EuroHSP
  • Analysing and reporting the results of my survey to share with the HSP world
  • Seeking out other on-line HSP communities principally to spread the word of my survey
  • Continuing this blog and posting/discussing HSP things on twitter.

Obviously, becoming chair of the HSP group is a big change for me, and I'm working with the rest of the committee to ensure that the group continues to support its members in the most appropriate way. There are several channels of discussion going on.

HSP in the news

There have been a couple of people with HSP in the UK news during 2017, both children. 

Firstly, Lily Rice became the first female from Europe to perform a backflip in a wheelchair - and

Secondly, right at the end of the year, Archie Blomfield has been chosen to play the lead role of William Trundle in the Christmasaurus alongside McFly's Tom Fletcher at the Hammersmith Apollo in London.
My youngest son is a dinosaur fan, and we read this great story last Christmas.

Friday, 22 December 2017

A brief history of HSP

I was having a brief look at papers in the "new research tool" I became aware of at the drug repurposing conference in 2016.

This pointed me to this article which is a brief history of HSP.

I have copied and pasted the article below, and shortened for this aspects most of interest to me - which is principally understanding the earlier part of the HSP story. If you're interested in the more recent aspects, the click the link and read away!

The article is called: Hereditary spastic paraplegia from 1880 to 2017: an historical review

It is written by: Ingrid Faber, Eduardo Rafael Pereira, Alberto R. M. Martinez, Marcondes França Jr and Hélio Afonso Ghizoni Teive from Universidade Estadual de Campinas and Universidade Federal do Paraná in Brasil.

The diagnosis of an inherited spastic paraplegia is based essentially on the clinical picture, together with the investigation of other, potentially affected, members of the kindred. 

In the last three decades, advances in molecular genetics have revealed that HSPs constitute a large and heterogeneous group of diseases. These frequently overlap clinically and/or genetically with other degenerative disorders such as ataxias, leukodystrophies, spinal muscular atrophy, amyotrophic lateral sclerosis (ALS) and peripheral neuropathies. Historically, the differentiation between HSPs and inherited ataxias has been the most challenging. The key to differentiating complicated HSP from ataxias with associated corticospinal tract dysfunction is to focus on the patient's main disabilities. As a rule, individuals with HSP are overtly spastic and have mild or no complaints relating to the upper limbs. Whereas, in the ataxia group, there is no pronounced dissociation between upper and lower limbs. 

Hereditary spastic paraplegia - first descriptions
In 1880, the Baltic-German (region known today as Estonia and Latvia) neurologist Ernst Adolf Gustav Gottfried von Strümpell published the first case series of patients with HSP. Strümpell reported on two siblings with a probable AD-HSP whose symptoms manifested at 37 and 56 years of age. Clinically, these patients showed a pure form of spastic paraplegia. After the death of one of the siblings, neuropathology showed degeneration of the lateral corticospinal tract, fasciculus gracilis and spinocerebellar tract. In 1888, Maurice Lorrain, a French neurologist, published a more detailed contribution to the anatomical and clinical study of HSPs; hence HSP also being known as Strümpell-Lorrain disease.

Clinical phenotype
Rhein was the first, in 1916, to drive attention to the exquisite clinical heterogeneity some families with HSP displayed. His observations were accompanied by many case series describing pleomorphic clinical pictures encompassing: retinal degeneration, dementia, extrapyramidal symptoms, mental handicap, hand amyotrophy and other features. The term Strumpell's familial spastic paraplegia was reserved for families that displayed only spastic paraparesis, a condition that was thought to be much rarer. Currently, it is recognized that pure forms are more prevalent than complicated ones, their relatively benign clinical course, not affecting life expectancy, greatly contributed to their underdiagnosis at that time. Most epidemiological studies were based on postmortem or hospitalization records.

Anita Harding, a professor of neurology at the University of London, was an important pioneer in the field of molecular neurogenetics. In the 1980s, she published a series of groundbreaking works addressing HSP. In 1981, she presented what was, at the time, the largest investigation into pure HSP, with 22 families studied. She also reinforced the knowledge that spasticity, and not weakness, is the main source of disability in this scenario, an aspect that remains useful in differentiating HSP from other myelopathies. Harding's major contribution to the field of HSP was published in The Lancet journal in 1983. Entitled “Classification of the hereditary ataxias and paraplegias”, this paper established an accurate differentiation between ataxias and HSP, providing a workable base for the etiological investigations that would come. Harding defined that, besides the spastic paraparesis, additional mild signs such as vibration and segmental position sense deficits, slight distal amyotrophy and sphincter dysfunction were also conceivably present in the pure phenotype. This work also provided refinement of the HSP phenotype, emphasizing the variability of disease progression, even within the same family. Sadly, Harding's outstanding career ended prematurely at the age 42 when she succumbed to a cancer. 

In 2006, the German Network for Hereditary Spastic Paraplegia presented the spastic paraplegia rating scale, developed to quantify the disease progression clinically. Validated measures of disease severity are essential to understanding the disease's natural history. Additionally, by their ability to measure treatment impact, they are decisive in the development of future clinical trials.
Structural characterization
While the clinical descriptions of HSP flourished during the 1980s, the pathological comprehension of the disease saw flourishing moments 100 years before. We return to Adolf von Strümpell, the first to identify the disease clinically, who was also the first to describe its pathological hallmarks six years later, in 1886. An unrelated case was also documented by him in 1904. Both pathological specimens showed degeneration of the corticospinal tract in the spinal cord with a distal-proximal gradient. Since then, the disease has been understood as a distal axonopathy of the longest large myelinated fibers of the spinal tract. 

In 1952, Schwarz gave an extensive review of the pathologic literature, highlighting the contributions of Newmark (1904, 1906, 1911), Jakob and Kahlstorf, that culminated with the differentiation of Strümpell's disease from other conditions such as cerebellar ataxias and motor neuron disorders, establishing that, at first, lesions are restricted to the spinal cord and affecting the corticospinal and posterior tracts

Advances in genetics
After the accurate clinical classification developed by Harding, the research involving HSP evolved from anecdotal case descriptions to the systematic study of families alike. Numerous HSP genetic studies have been published since the 1980s. Several genetic subtypes of HSP have been described and numbered sequentially, based on the order of the gene discovery (SPG1, SPG2, SPG3, etc. In 1994, Jouet et al., reported that three disorders; X-linked spastic paraplegia, MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and X-linked hydrocephalus were, in fact, allelic conditions, all resulting from mutations in the gene for neural cell adhesion molecule (L1CAM or SPG1). This was the first gene discovered that caused HSP; Also in 1994, Hazan et al., identified the locus implicated in the majority of cases of dominantly inherited HSP.

In 1998, the first gene for autosomal recessive HSP was identified, when the HSP-SPG7 gene was cloned. In 2007, SPG11 was identified as the gene most commonly related to spastic paraplegia with mental impairment and thin corpus callosum. HSP-SPG11 has been recognized as the most common AR-HSP. Surprisingly, SPG11 mutations can also primarily present with other phenotypes, such as parkinsonism or ALS.

Friday, 1 December 2017

Symptoms Update - Walking

So, it looks like there hasn't been many symptoms updates, and then two come along in quick succession!

Observations from the last couple of months are that my walking speed has dropped, but I'm not really sure over low long this has taken place. Certainly before I was living in Bristol I was quite a fast walker, and easily found myself at the front of groups walking. When I was visiting the Lake District (and other similar places) to go walking I know that I was able to average about 5km/hour overall, the uphill bits being the slower part of the average. I used to be able to comfortably achieve 5km/hour on other walks.

These days I notice that I am now walking slower than most people - a walk along the street will see people passing me, and I have to speed up if I want to keep up with a group of people. Recently I went to meet a friend for a couple of drinks which involved a 1.8km walk which I managed in about 23 mins, slightly downhill - about 4.7km/hr, which felt like quite a pace.

The main new thing to note, however, is that about 3/4 of the way back home at the end of the evening my legs were feeling really tired, and I suspect that I shouldnt say that my walking distance is unlimited any more. According to fitbit I had a 15km day, which is one of my busier days. You should note that I treat the distance on fitbit as a measure of activity rather than a measure of distance because fitbit counts some steps whilst I am cycling, but my average distance/busyness is about 9km per day.

Saturday, 18 November 2017

Hyperactive reflexes and Clonus

Two of the HSP symptoms which are mentioned reasonably often are hyperactive reflexes and clonus, but I wasnt sure what they are, so it was time to do some investigation. And, actually its quite tricky to work out. It appears that hyperactive reflexes and clonus are related - both are grouped together under the heading Hyperreflexia. It is very easy to find plenty of references to these as being symptoms of something else. Apologies for a very link heavy post!

Looking at HSP, I find: spasticity is an increase in muscle tone with resulting stiffness. Muscle tone refers to the mild contraction that muscles continue to exhibit even when at rest (ie, resting muscle tone). A reflex between nerve endings in the muscle and spinal cord regulates muscle tone. Normally, the corticospinal nerves control and reduce sensitivity of this reflex. Because HSP causes deterioration of the corticospinal nerves, the reflex is not reduced as it should be, the result being an exaggerated (ie, hyperactive) reflex and increased muscle tone. Essentially, HSP prevents the muscles from relaxing properly.

Clonus is relatively easy to trackdown - it is alternate involuntary muscular contraction and relaxation in rapid succession. This can also be described as rhythmic. Clonus is a larger motion than a twitch, and the muscles will contract and relax between 3 adn 8 times a second, for between a few seconds and a few minutes. The connection is that these are often caused by a reflex. gives some info.  Once more there are videos of this, for example on the ankle: and a faster one here, and for the legs and here You can also see plenty of people with their legs shaking - Here's a description: This all reminds me of things I was told back in my 2013 survey about people being misdiagnosed with restless leg syndrome.

Hyperactive reflexes are more tricky to track down, and it is difficult to know what level of reflex is considered normal (although there is a scale of 0 to 4 with 2 being normal If a reflex is hyperactive then the muscles have a larger movement than normal when they are tested on the reflexes (and the score would be more than 2). You can see that some people have both hyperactive reflexes and clonus: and

There are plenty of websites and medical papers which describe people with HSP who have either or both hyperactive reflexes and clonus, but these papers tend to assume that the reader knows what they are!

(p.s. I had previously looked up clonus myself in 2012, reflecting on my jumping legs back at school:, and borrowing the clonus text from the SP Foundation website)

Sunday, 12 November 2017

New! Fitbit data (and some symptom updates)

Earlier in the year I got myself a fitbit (part of a gift from work to celebrate my working there for 20 years). If you dont know, this is a watch with a motion detector and a heart-rate detector. It allows me to track how active I am and how well I sleep (among other things). The data tracks over time. I'm hoping to be able to use it as another monitor for the slow progress of HSP.

So, first things first, what am I tracking?

  • Steps per day (along with distance & height)
  • Exercise/activity levels
  • Heart-rate
  • Sleep levels

I've got in my personal data spreadsheet various columns which track these things on a weekly basis. I'm hoping to be able to use this data in parallel with the data from strava ( and from patientslikeme ( and see if there are any trends. Perhaps between level of activity and fatigue

After looking at the first few months worth of data I note:

Stretching time - I hadn't been accurately timing the overall duration of my stretches. As I have been going to the physio regularly various extra stretches have been added in to my routine, and I had mentally chalked this up as "10-15 mins". However, using fitbit my typical stretching session is about 8-9mins. If I'm in a rush I'm in the 5-6mins and sessions over 10mins are unusual (for now).

Heart-rate - two things to note here. Firstly, my heart rate when walking goes up higher than my heart rate when cycling, which perhaps suggests that walking requires more effort than cycling. Also my resting heart rate goes up for a few days after I've consumed a fair bit of alcohol. Resting heart rate doesn't appear to be related to my level of exercise. Overall, the walking update is that I feel a bit slower now, and walking is beginning to require a bit more effort to do. I used to be a quick walker, and now I'm heading towards the slow end of normal/typical walking speeds. I notice this the most when I'm walking with other adults rather than out with my kids.

Stair counting - My fitbit counts number of flights of stairs climbed, which it does through sensing the change in air pressure. This is one of the aspects that I find frustrating as the count is not always accurate, and so sometimes I'll have gone up more flights of stairs then the fitbit says. My 'fix' for this is to raise my hand up in the air when I get to the top of the stairs and this normally registers the climb. I find that stair climbing is beginning to get more tricky - a bit slower, and having to use the banister. I expect that it will get more tricky as time goes on, so every step counts!

Step counting - This is generally good. As the watch is worn on the wrist it gets is step count by detecting the motion of the wrist rather than actually counting steps. So, it doesnt work well when I push a supermarket trolley around a supermarket for example, which leads me to suspect that a fitbit wouldn't work work well for someone with a walking frame. On the other hand, I can get quite a bit step count from doing tasks like unloading the dishwasher or ironing clothes, so for me I'm using step count as a measure of activity level rather than specifically a count of the number of steps I've taken. Having said that I've set myself a daily step target, and if I'm close to it at the end of the day I'll just a few more steps to get to the target or to the next badge level. (

Toilet counting! Fitbit can remind/nag you take 250 steps per hour, to avoid staying stationary for long periods of time ( At work I find that if I use the toilets that are not nearest my desk then a round trip is just over 250 steps. I find that once an hour is about right for urinating. Worth noting that I'm not desperate to go after an hour, so I'm going to the toilet more frequently than my bladder demands, and sometimes I'm in meetings or on telephone calls that are more than an hour in length without a problem. but it helps to understand how often I'm going. If my calls/meetings get on for about 2 hours long then I do need to go, urgently!

When it comes to my end of year review next month I'll work out what new health tracking stats i want to add to my symptoms tracker - I have more than a full year of bike/strava data already. On this front, there are a few alterations to my usual routine as well. Back in April I began going out for more leisure/social bike rides as well as my regular commute, so the first third of the year has shorter distances than the second two thirds. I suspect I'll need a graph to see if there are any trends.

Sunday, 5 November 2017

International HSP names

Part of the promotion for my online HSP survey has been finding HSP groups on Facebook and letting them know. I spent some time translating a post about my survey into different languages. (I used Google translate). It comes as no surprise that the name HSP is different in each language. This post puts down what I have found:

Hereditary Spastic Paraplegia
Hereditary Spastic Paraparesis
Familial Spastic Paraplegia
Familial Spastic Paraparesis

French: Paraplégie Spastique Familiale (PSF)
Portuguese: Paraparesia Espástica Familiar (PEF)
Spanish: Paraparesia Espástica Familiar (PEF)
Italian: Paraparesi Spastiche Ereditarie (PSE)
Italian: Paraparesi Spastica Familiare (PSF)
Swedish: Hereditär Spastisk Parapares (HSP)
Dutch: Hereditaire Spastische Paraparese (HSP)
German: Hereditären Spastischen Spinalparalysen (HSS)
Danish: Hereditær Spastisk Paraplegi (HSP)
Danish: Hereditær Spastisk Paraparese (HSP)
Greek: Κληρονομική Σπαστική Παραπληγία (ΚΣΠ)

Strümpell-Lorrain disease
La maladie de Strümpell-Lorrain
Strümpell-Lorrain`s sygdom

If you know any more, do let me know!

Also, when thinking of a list of HSP names, i know there are also names for certain types of HSP, found on OMIM

SPG1: MASA Syndrome / CRASH Syndrome
SPG3A: Strumpell Disease
SPG9A: Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities
SPG15: Kjellin Syndrome
SPG17: Silver Syndrome
SPG18: Intellectual Disability, Motor Dysfunction, And Joint Contractures; IDMDC
SPG20: Troyer Syndrome
SPG21: Mast Syndrome
SPG23: Lison Syndrome
SPG35: Fatty Acid Hydroxylase-Associated Neurodegeneration
SPG39: NTE-Related Motor Neuron Disorder
SPG47: Cerebral Palsy, Spastic Quadriplegic, 5, Formerly; CPSQ5
SPG50: Cerebral Palsy, Spastic Quadriplegic, 3, Formerly; CPSQ3
SPG51: Cerebral Palsy, Spastic Quadriplegic, 4, Formerly; CPSQ4
SPG52: Cerebral Palsy, Spastic Quadriplegic, 6, Formerly; CPSQ6

This tells me that there is no SPG22 or 40, and the list gets a bit fragmented in the high 50's and beyond. At the time of writing the last one is SPG79.

Saturday, 21 October 2017

Comments about my walking

In the last year or so i've started to get the occasional comment about my walking.

Some of these are from colleagues at work who I don't see very often. They all know about my HSP, but I have also had some comments from strangers. I wasn't expecting this to happen! It is a bit unsettling, and i've not yet worked out how I should react.

I realise that this must mean that my spasticity is beginning to be more visible, and I'll probably have a few answers lined up which I can just give. Reciting my story to strangers is not really my style, so initially I'll probably go for something like "my legs are just a bit stiff". (I realise that comment about not reciting my life story is a bit contrary to you reading my life story here!)

One person made a comment once that I should use the lift, when my foot scuffed on the way up some stairs. I automatically thought "no! I need to use the stairs to keep my muscles working, you don't understand" - but of course I didn't say this. It was just a quick comment with no context, and my mental reaction was a bit strong and I need to watch that - part of the stress management toolkit.

Saturday, 14 October 2017


Fatigue seems to be a reasonably common symptom with HSP - my 2013 survey identified that fatigue was the third most commonly occurring symptom (after loss of balance and getting more stiff in the cold). 62% of respondents reported that fatigue was significant (occuring frequently, regularly, most of the time or all of the time), 20% of respondents indicated that fatigue was minor or affected them occasionally, with 8% of respondents not being affected. Full report here:

So, what information can I found out about fatigue in HSP? - Not much.

People with HSP on patients like me also report fatigue, with 20% reporting severe, 40% moderate, 33% mild and 7%  without fatigue. Grouping severe and moderate together (60%) this is the same result I showed in 2013. Data here (although you have to be signed in to see this).

There are two papers:
One from 1999: - with no abtract here. Some hunting shows the start of the article here: This paper appears to cover the aspects of HSP as they were at the time. There is no mention of fatigue on the first page.

The other paper is from 2016: This paper compared 30 people with SPG4 HSP with 30 controls in Brazil. This paper reports that patients with HSP had higher levels of fatigue than controls (as well as more pain and more depression).

The lack of published information, and comments about fatigue from others led me to include this in my 2016 survey, I asked people to complete 3 different fatigue surveys and these results showed;

  • 11% of people had mild fatigue, 62% had moderate fatigue and 27% had severe fatigue. 
  • Fatigue is generally independent of mobility.
  • Whilst the physical factors of HSP contribute the most to fatigue there is also an important cognitive aspect. 
  • Those with SPG7 tend to have a higher level of fatigue than those with SPG4. 

I compared my results with the Brazil results and found they were comparable.

If you have a low mood/depression and wish to do something about it, you could look here: - I found this on this podcast - plenty of other interesting similar podcasts here!

Friday, 6 October 2017

Summary of depression posts

I've been keeping an eye out on my blog statistics, and one of my posts on depression is getting quite a bit of interest in the last few weeks.

This post simply summarises the main depression posts I've put up, here together for handy reference.

Stress and depression tests (March 14)
In this post I report the Generalised Anxiety Disorder Questionnaire (GAD-7) questionnaire and the Patient Health Questionnaire (PHQ-9) tests after encountering them at my referral to the local psychology unit. The post includes links to both and a summary of how scores are interpreted.

The depression paper! (September 11)
This post is where I first found the paper describing the prevalence of depression in people with HSP from Estonia. I then use this paper in 2015 as a comparison with my own results.

Stress and mood management course notes (April 2014)
This post is a precis of my notes from the stress and mood management course I went on. The course introduced cognitive behavioural therapy, descriptions of the normal cycles of stress/anxiety and low mood/depression, and various tricks to help break out of those cycles, rules for living, communication, and problem solving.

Assessing your own depression (January 16)
This post was written after a conversation with a friend who had been suffering from depression and described an alternative approach to assessing yourself than the two questionnaires from the 2014 post. This self assessment considers well-being and aligns it with depression. You score yourself on how well you are living within your own values.

Presentation at the 2013 AGM
At the 2013 UK AGM Liz Redmond gave a talk called "Looking After Yourself" which covered low mood, another term for depression. The talk gave various techniques to help look after your mental health. (On a similar theme, see also;

Part of my 2015 survey:
In my 2015 survey I asked respondents to complete the PHQ-2 questionaire which can be used as a screening tool for depression. Overall 63% of respondents had some symptoms of depression and 37% were without those symptoms. Additionally, the results suggest that around one quarter of people with HSP may require further assessment for depression, particularly for those who are using walking frames all or most of the time to get around. There are further details in the link on my analysis of these results.

A symptom included in my 2013 survey
Depression was one of the symptoms mentioned in my 2013 survey, which showed roughly 1/3 with no depression, 1/3 with mild depression and 1/3 with significant depression.

Wednesday, 27 September 2017

Alexa as a home help?

I was having a discussion with my mum about getting a fall alarm, and there are different options available. These systems give you some kind of button to press which causes your phone to dial predetermined phone numbers so that someone can come round to help you get up.

I wondered if it might be possible to use Alexa (or one of the other similar products) as a similar system. A quick bit of online looking tells me that Alexa has a number of skills which you can enable. One of these appears to allow you to do this, using the "My Family SOS" skill: You say the phrase "Alexa open my SOS family" and it will start calling your list one number at a time.

It strikes me that you might need to test how far from the speaker you can be for it to work well, and you might need to think about moving the speaker nearer the areas where you have a higher risk of falling, or having more than one speaker around your house. This could represent a disadvantage.

On the advantage side it would mean that you wouldn't need to remember to put your fall bracelet/necklace on.

It strikes me that these voice activated speakers could be a bigger help than this. Others think so too. Here's an article where a blind person considers how Alexa could help the disabled:

Another article on how Alexa could help all kinds of people:

Just for clarity, I dont have one of these.

Update 28/9: Another, more comprehensive system:

Tuesday, 12 September 2017

2017 Survey Now Open

*** Update - results published 28 Feb 2018: ***

After the success of my previous surveys, and feedback from readers and others, I'm continuing the pattern with another survey this year.

My focus for this survey is understanding:

  • How HSP affects peoples jobs/occupations
  • Pain
  • Factors that affect walking
  • Wellbeing

There are a range of questions for each topic. I have designed my own questions for occupation and walking factors. Pain is assessed using the Short Form McGill Pain Questionnaire 2, with extra questions on where the pain is felt and how you treat it. Wellbeing is assessed using the Warwick-Edinburgh Mental Well-being Scale (WEMWBS) for  assessing positive mental health and the Patient Health Questionnaire (PHQ2) used as a screening tool for depression.

Following the previous pattern, I will collect results until early 2018, then analysing these in time to publish the results here on rare disease day, 28th Feb 2018.

Also like before, all questions are optional (apart from your name and country). If you have taken part in any of my surveys before, I'd appreciate you using the same name to allow tracking.

I would appreciate any readers with HSP to complete this survey:

Mid October update: I've just over 100 responses so far. Quick highlights: 

  • 80% consider themselves disabled. 
  • 80% get pain from HSP. 
  • 80% cannot walk as far as they want. 
  • 40% are in work, 30% do not work. (other 30% retired/student/carer). 
People are spending ~25mins to complete the survey, and I'd be really pleased for some more responses. Thanks to everyone!

Early December update: I've now got over 150 responses, and am looking into the results in a little more detail. I'm still collecting answers for another month or so, so if you have HSP and a spare half an hour, please take part.

As more complete the survey the proportion considering themselves disabled has gone up. Now 85%.

80% of people with HSP suffer from pain. 50% have mild/discomforting pain whereas 30% have more severe pain.

For people who have walking effects, the biggest factors affecting walking are all types of uneven/sloping/stepped ground, carrying things, needing the toilet or being tired.

85% of people who do not consider themselves disabled are working or studying, whereas for those who consider themselves disabled it is 40% working or studying.

Around 2/3 of people have had to change jobs or stop working early as a result of HSP. A similar proportion expect that they will have to change jobs or stop working early as a result of HSP in the future.

Thursday, 24 August 2017

AGM2017: Living with the enemy - Robin Paijmans

The last presentation at the AGM was called Living With The Enemy: Psychology of Chronic Conditions, by Robin Paijmans. Robin is a psychologist looking at human behaviour, and how changes in behaviour affect life.

With chronic conditions there are both physical changes and mental changes. There are often different tools which can help to cope with the physical changes, however the issues around changes in mental are that these require a change in the way that we think. With chronic conditions there are three questions:
How do I cope?
How does my family cope?
How do professionals cope.

Robin observes that medical professionals are oftem compulsive problem solvers, they want to fix things, and often with chronic conditions there are no cures or solutions, which presents a problem for the problem solver.

Generally, people deal with problems either by moving towards the problem or moving themselves away from the problem - the approach/avoid.

When we visit healthcare professionals we ask questions like: Will they know about my condition? Can I trust what they say? Will they help me? Are they behaving appropriately (listening/giving attention/etc.)?

The healthcare professional may have questions of their own: Will the patient know how I feel? What will I do? What if I dont know what to do?

Robin then described a "brain hack" which people may be able to use at times that they are not feeling happy. It is a mindfulness technique. I'll write the points as a list of bullets:

  • Pick something which is worrying you
  • Choose a number between 1 and 10 to represent how much this worries you (1 is perfectly OK)
  • Imagine the issue as an object in the room/space that you are in. Think how it looks:
    • What colour is it?
    • What shape is it?
    • What size is it?
    • What texture does it have? (e.g. rough/smooth)
    • What temperature is it?
    • How heavy is it?
    • Where is it in the room/space that you are in?
  • Now imagine moving the object to a place outside the room/space.
  • Now imagine moving it a couple of miles away.
  • Choose a number between 1 and 10 to represent how much this worries you (1 is perfectly OK)
The second number should be smaller than the first number, and you have mentally shrunk the problem.

Note - if you cannot mentally move the object away from you then try changing its colour/size/weight/texture instead.

Robin discussed values, in that these values are a compass heading to guide you towards things that you want to do/achieve/have. The values themselves are not the destination. However, some things that we do to move away from discomfort can also move us away from our values. Once you have identified your values and being working towards them this can give you the strength to face threats. There are lots of things which we can do every day to reinforce our values.

Robin mentioned two books:

I've ordered the second one from my library. I'll post a review when I've read it!

Sunday, 13 August 2017

AGM217: Update to PARCC study - Prof Jon Marsden

Prof Jon Marsden gave a brief update on happenings with the Physical Activity in Rare Conditions Collaboration (PARCC) study.

Readers can read my blog post on the initial meeting back in Janurary 2017 here: Jon said that the group comprised Huntingtons Disease (HD), Spinocerebellar Ataxia (SCA),  Muscular Dystrophy (MD). Progressive Supranuclear Palsy (PSP) and, of course, HSP.

The researchers leading the work are experts within these conditions and associated symptom relief (e.g. physiotherapy). There are many similarities in the the symptoms of these conditions, and the approach is to develop an approach which works on these symptoms.

They are aiming to use the various support groups to map the different practices, working out what is done and how it is done. They are investigating potential physical activity rehabilitation options to deliver outcomes, working out how they will measure those outcomes, and working out how they would implement those options.

Jon referred to Rachel Chapmans falls study, wondering if they could look at walking style to reduce the risk of falls. It might be possible within the PARCC remit, or it may be for a different study.

AGM2017: HSP Falls Study Results - Rebecca Chapman

Rebecca is completing her dissertation at Plymouth University, looking at the characteristics of falls and predictors of falls in HSP. She gave us an overview of the results obtained so far.

Rebecca outlined her approach - One of the main problems identified by a patient group l;ast year was falls. This a self-reported study, i.e. participants in the study report things that occur to them rather than being quizzed about things. The study is a two stage approach. Participants firstly describe details about themselves and recall any falls that have happened in the past, and for the following three months participants record falls and send details in to Rebecca. These stages are the retrospective stage and the prospective stage. Rebecca had feedback on the approach through the HSP group meetings in Ashburton, Devon.

There was an initial trial with 5 participants, and the members of the group were recruited to take part. There were around 70 who expressed an interest, with 59 participants in the retrospective study and (at the time) 47 completing the propspective study. Rebecca gave us details looking at the results of the retrospective study.

The balance was 28 female and 31 male, with an average age of 60 (standard deviation 14 years). On average participants had had HSP for 25 years (standard deviation 17 years).  15 participants have SPG4 and 7 have SPG7

Two thirds of people have fallen at least once, and just over half of people had fallen more than once (32 people). On overage there have been 2 falls per person. 86% of falls have occurred indoors, but Rebecca didnt look at the proportion of time spent indoors and outdoors. Of the indoor falls 21 were unable to get up unaided. 2/3 of people got a family member to help them up, 1/6 of people used someone external to help them up, and 1/6 used both family members and external help. Of those using external help 3 called a paramedic to help them get up.

Around two thirds (64%) have injured themselves with falls. Whilst most injuries are mild, and most are on the hip, around half injured themselves in multiple locations.

Rebecca looked at the data given by participants to examine possible predictors of falls, with the most likely ones being age and use of crutches. Most participants were aged between 55 and 65 with an average age of HSP onset of 40 - i.e. there has been some mobility impairment due to HSP.

It is known that some medication makes people drowsy. There was an average of 4 medications per person. The results were that this is a possible predictor, but were not statistically significant.

Co-ordination was also examined, as participants are frequently need to use their arms to help sit/stand, but again, these results were not statistically significant.

Looking further at the detail, falls indoors were often associated with everyday activities - cleaning and using the stairs. People on crutches tended to be more mobile than others, and younger.

Looking at the future, issues could be helping people to develop a falls strategy, giving both patients and family members falls training, and investigating falls aids. Rebecca mentioned paraladders (I cant find a good UK website - here is one from the US - there are also various youtube videos of people using this).

How does this study help?
* It provides evidence of falls with HSP, and the report should open access to existing therapies
* It sets out a strategy for improvements and training to reduce the risk of falls (i.e. to stop falls happening in the first place)
* It helps people look at changes they can make - perhaps balance training or modifying doses of medications to alter the balance between stiffness and the number of falls
* It gives evidence that people need to be taught how to get up, or aids to help themselves to get up.

Rebecca noted that the average NHS charge for an ambulance is £1200, so giving aids or teaching for people to get themselves up, which would reduce the number of ambulances going to help people, could be a cost effective for the NHS.

Friday, 4 August 2017

AGM2017: Current HSP Research - Prof Andrew Crosby

Professor Andrew Crosby gave a presentation on current HSP research.

He began by giving an overview of some of the HSP characteristics. HSP is described as being "heterogeneous" - but what does this mean? Simply, it means "variable", genetically in this context. There are 73 different HSP genes identified, of which about 40 have been confirmed in follow up studies covering several families. Prof Crosby speculates that there will be hundreds of HSP genes in the end. There is also variability within one variation - he mentioned Silver Syndrome (also known as SPG17, which inherits dominantly) which he described as HSP plus hand muscle wasting. First symptoms are usually observed in teenagers. One example mentioned had a parent who was normal at 48, but it is not known why.

Background information: Our genes are responsible for producing proteins which have jobs to do in our body. The proteins are made from the DNA in our genes, although they have to go through several steps to do this. Should a gene be faulty there may be a problem with the proteins that are produced. Neurological conditions are often referred to as "upper" where the brain and/or spinal cord are affected, or "lower" when the nerves between the spine and the muscles are affected. Some motor neuron diseases may affect the upper, lower or both sections. HSP is a motor neuron disease.

By considering all motor neuron diseases together provides a bigger family of conditions and knowledge of one genetic alteration may help all motor neuron diseases, and the more confident researchers can be of finding a genetic route for changes.

Prof Crosby described the Amish community, who live in the Pennsylvania and Ohio/Indiana areas of the USA. They originated from the Swiss/German borders and two waves of migration happened, in 1737 and 1815. The Amish population keep good genealogical records and tend to marry within the existing communities. There are 4 types of HSP in the Amish which are not found elsewhere. Given the records they can trace the current population back to the original migrants, and one person out of a couple carried a recessive form of HSP. SPG20 is one of the types found in the Amish. In this type one C in the DNA becomes an A, the result of which is that no protein is made.

There are 13 HSP genes which are known to feature in at least one other condition. Drugs for other conditions with similar nerve problems could be looked at for treatment trials.

The work that Prof Crosby is doing at Exeter is to try to develop a blood test for HSP. Such a test may be able to prevent other clinical tests being done. If a test can identify a gene which is different then this can give information on: what has gone wrong, opportunities to improve the molecule, and help to develop a treatment.

Although HSP is a neurological condition there is a biochemical process. In order to develop a blood test it is a question of identifying the pathways that are affected. Such a blood test would look for biochemical signals and, if successful, may be able to test whether people might develop HSP.

The issue with genetic testing is that some parts of DNA are more susceptible to change than other parts. Genetic tests on two people with the same genetic mutation would not, for example, prove that they are related to each other (they may be related some generations back). Tests will show a number of changes, but it is not always clear which change gives rise to HSP. With analysis of family trees this can help, and if a genetic change is identified to cause HSP with certainty, then this can be added to an HSP panel test.

The Caucasian population has been studied more than other populations and so there is more certainty on which genes cause which conditions. Genetic tests from people from other backgrounds are more difficult to interpret as there is less data available.

Saturday, 22 July 2017

AGM2017: Overview of Genetics Service - Dr Nicola Cooper

Dr Cooper gave an overview of the genetics service offered at Birmingham Women's and Children's Hospital, although much of what she said is good relevant information. She began outlining that one in 17 of the population are likely to have a rare condition in their lifetime, and genetic testing can help to identify the cause and progression of such diseases.

There are four main aspects of the care that they give:
1) Giving information on what genetic testing is - how it can (with a definitive result) be used to guide treatment and give an assessment on potential outlooks on life, and can give information on if things are/can be passed to children and the level of risks for different aspects and provide information for the family.

2) Outlining the different choices available - there are tests for individuals, and tests can be done on children and during pregnancy.

3) Providing support for the while family - the results of a test can affect more than just the person being tested.

4) Help families make the choices that are right for them.

In the wider sense diagnoses can be made in a number of different ways. The persons family tree can be examined, there can be a number of physical examinations or investigations, and sometimes there is a genetic test available.

There are three types of genetic inheritance, and there are examples in HSP of all three types. Each gene that person has is a pair of genes, one from their father and one from their mother.

If a condition is 'dominant' then the gene for that condition needs only to be in one of those pairs for the person to have that condition. (SPG4 has dominant inheritance). With dominant conditions there are no skipped generation and each child has a 50/50 chance of inheriting from their affected parent.

If a condition is recessive, then the person needs to have inherited the gene from both parents. (SPG11 has recessive inheritance). If a person has one copy of the recessive gene then they are a 'carrier' of the condition but are not affected by it. Recessive conditions can skip generations as people can be carriers. If both parents are carriers then the chance of a child being affected by the condition is 1 in 4.

Lastly X-linked inheritance where the gene for the condition is on the X chromosome. These generally affects males as they only have one copy of the X gene, being XY). Females are XX, and are usually unaffected by the condition but can carry it. (SPG1 has X-linked inheritance).

Further to inheriting genes from our parents there will also be some genetic changes within us. Dr Cooper said that each person has around 60 genetic changes which are not in either parent. Such changes could lead to HSP with any form of inheritance.

Dr Cooper then went on to talk about diagnostic testing. This can be used for a person affected by a condition. The testing can firstly identify what the condition is, and then hat type it is. Predictive testing can similarly be undertaken for unaffected relatives. Having a test can help with planning, career choices, life decisions and that kind of thing.

With predictive testing there will always be  a look at personal history. This will help understand the personal circumstances for the person and level of support that they would have. One of the biggest factors is that having a test changes perspectives - you move from "might have" a condition to "will have" a condition. Part of the personal history is getting a feel for how this might affect someone psychologically. Having a result can be beneficial in terms of planning for the future, but could also have a disadvantage in that you may have to declare that you have a condition when applying for a mortgage, for example. She noted that a clinical examination is always a snapshot of a person, it cannot tell you how you will be in the future.

Dr Cooper described two different types of genetic testing. Until relatively recently genetic tests were done using "Sanger Sequencing" which looks at one gene at a time. Now such test are done with New Generation Sequencing (NGS), where a panel of different genes are looked at simultaneously. Gene panels tend to have ~40 different genes in them.

One issue with panel tests is that interpeting the results can be difficult to do. Some of the results back are not clear. Other results may come back showing changes, but it is not always clear that those changes are giving rise to the effects being observed. Some people are affected by more than one rare condition, and it may be difficult to identify what is going on from panel test result, especially if some of those conditions are similar. The age of onset and rate of progression of HSP have influences from other factors. Some of these factors will be genetic and others will be environmental.

Dr Cooper described genetic changes as being like a key. The genetic change can happen at any place in the gene and the effect of the change depends on where it happens. If we liken a gene to a key, then if the change occurs in the part of the key which you hold then the key will still open the lock perfectly. Some change may be small, and that might be like a slightly wrong key which you can get to open the lock by giving it a bit of a wiggle - and that all might be OK. When the change is bigger or occurs in the blade of the key then the lock may not be operable with that key.

If you are in the UK and do not have a genetic test result for HSP then you may be eligible for the 100,000 Genome Project. Talk to your neurologist!


Thursday, 6 July 2017

Chair of UK HSP Support Group

At the weekend I went to the UK HSP Support Group AGM in Birmingham. This means that I've my next few posts covered with reporting the different presentations that were made there.

The AGM was at a new venue this year, and I think that it worked really well, meeting the needs of the group. The turnout was great with nearly 100 people there, so getting on for a fair proportion of the membership. The AGM followed the usual format with a number of speakers (4 this time) and some time for members to chat amongst themselves, over lunch and between talks.

At the AGM Ian Bennett stood down as Chair of the group, and in discussions with Ian over previous months I had put myself forward as Chair. There were no other people who put themselves forward, so I was elected as the new Chair of the group. I'm just getting my head round my new role and responsibilities at the moment, but I'm intending to follow Ian's excellent work, and my initial aims for the group are:

  • Promote the groups activities, 
  • Listen to ideas from members,
  • Follow the groups our charitable objectives

If anyone has any ideas about what the group should be doing, I'm happy for people to post here, drop me a message or leave a comment on our faceboook group ( or page (

Tuesday, 27 June 2017

The 2017 Potato Pants Festival

Its only a few days to go till the 2017 HSP Support Group AGM, which is on Sat 1st July. You can see details of that here:

This post is, however, about the 2017 Potato Pants Festival, which was on Sat 3rd June. I went there with my family, and it was really good fun. Actually I was there with my extended family as the festival was in the area where my wife's family live, so actually there were a fair few of us there.

The event was organised by Ian Bennett, chair of the Support Group, following various conversations he'd had with others about this. 2017 was the second year of the festival, and it felt like a well organised friendly affair. My kids spent most of the afternoon on the bouncy castles, whilst the rest of us sat on the grass listening to the music and having a good look around. The bands were playing in a big tent and there were plenty of people listening and then dancing.

During the changeover between the bands there were the now infamous potato pants races, where up to six people put on specially made trousers, loaded up with 10 potatoes down each leg. The race was a simple "run to that crate and back again" race, so a distance of about 50m. Why? The concept comes from a discussion Lori Renna Linton had with her daughter. You can watch her story in one of the links below. This conversation set off a chain of activities, and the potato pants festival is a descendant of this idea!

At the festival there were also a few stalls selling things, a bar, an ice cream stall, a hot dog/burger outlet, a few other games and events for people to take part in, and people were also free to roam around the farm.

I thought that the event was great. The music was really good, all the people were really friendly, and its a really nice way of raising awareness about HSP.

Of course, its not just about the fun, the event was to raise money, so there were lots of volunteers helping on the day, and I hope to find out at the AGM how much was raised for the charity. I'm looking forward to next year!

Some links about the festival:
Review 1: (with loads of pics)
Music 1:
Music 2:

The original potato pants story:
Where else the idea is going:


Wednesday, 7 June 2017

Report: Juggling care and daily life

I take part in rare barometer voices surveys ( Recently the questionnaire was about balancing the different aspects of life with a rare disease. You can read the full report here:

Over 3000 people from across Europe responded to the survey, with a range of rare conditions, so the results are not HSP specific. My key takeaway points are:

Issues with daily activities:

  • More than 70% consider that they have difficulty with daily activities and tasks and that the disease impacts their motor and sensorial functioning;
  • More than 50% mention that their social life and their ability to cope with personal care activities is impacted by the disease, as well as their ability to control general behaviour and to take care of their finances;
  • More than 40% also have difficulty with understanding, learning and communicating with others.

Impact on daily life:

  • 85% of respondents says that the disease impacts upon several aspects of the health and everyday life
  • 42% spend more than 2 hours a day on care-related tasks.
  • A significant percentage of carers are providing intense caring: 30% spend more than 6 hours a day helping the patient

Rare disease information:

  • 75% of respondents declare that; finding necessary information on the disease, finding the right professionals, arranging and attending appointments with different service providers, and travelling to and from appointments, is time-consuming, and 64% of respondents consider that it is difficult to manage.
  • 75% of respondents consider that the level of knowledge among social workers, teachers and care givers is deficient because the diseases are rare and the situations very specific and complex.  Professionals do not seem sensitised to general issues that surround rare diseases, such as the difficulty to get a diagnosis or the number of care providers that can be involved in the management of a single disease.


  • 46% of People affected by a rare disease remain employed - working whilst caring or when affected by a rare disease represents a major challenge. 
  • 76% of the respondents declare that the fact they are affected by a rare disease has limited their professional choices; 67% also declare that the disease has limited them in being promoted.

Social impacts:

  • 54% declare that isolation from friends and family was caused or amplified by the rare disease.
  • More than half of the participants (52%) report that the disease triggered tensions between family members. 
  • In contrast, 45% declare that the rare disease has strengthened the family unit.
  • 37% of the respondents declare that they feel often (19%) or very often (18%) unhappy and depressed, compare to 11% of the general population.

Friday, 12 May 2017

Shoe wear update - data!

I've just, in the last month or so got both new trainers and new shoes, which means that I now have my first set of shoe wear data, co-incidentally two pairs at the same time.

My shoes lasted 2 years 2 months From Oct-2014 through to Dec-2016 (they were basically worn out by Christmas 2016, but I dragged another couple of months use out of them, getting the new pair in April 2017).

My trainers lasted about a year less, one year and three months from Jan 2016 through to April 2017 (with the new pair in May 2017).

In both cases, you can see that my left shoe is substantially more worn than my right shoe. (of course, we're looking at them from your perspective, so my left shoe appears on the right of the photo!)


The main problem for my shoes (which is not too surprising) is that they let water in when the ground was wet.


The main problem for my trainers is that the sole on the left shoe was becoming unstuck, and would occasionally fold back under the shoe if my foot passed close to the ground. You can see that the soles of my trainers are considerably more worn that the soles of my shoes, and this is because I wear my trainers whilst riding my bike.

I was more dissappointed with the rate of wear on my Diadora trainers than with the wear on my shoes. Clearly the bike wears them out quite quickly, and whilst I didnt perceive wearing the trainers much other than for cycling, the wear on the tips suggests that this is not the case! I've gone cheap for my next pair, with Boston Athletics.

I think that my shoes (which were Sketchers) fared much better - these are the shoes that get most of the wear and tear, and I've worn out and about in most environments (woods, trees, rocks, beaches, . My replacement shoes are also Sketchers.

The only shoes that have not yet entered the logging system are the shoes that I wear at work - I have two pairs of those and they aren't going anywhere soon. I also have two pairs of boots for walking, but they get used once in a blue moon and would feature here way after my work shoes.

Sunday, 7 May 2017

HSP affecting Quality of Life

Study of HSP
I found a research paper from 2016 which looks at the differences between people with HSP and a control population to evaluate the burden of HSP. The study was undertaken in Norway, comparing 108 people over 30 yrs old with HSP against an age and gender matched sample from a study of 46 thousand people. 

The paper is called “Health survey of adults with hereditary spastic paraparesis compared to population study controls”, by Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark and Grete Hummelvoll. You can read the full paper here: I've taken my highlights from the paper and repeated below.

The study is a broad survey of health and everyday life domains among persons with HSP, including life satisfaction, mental wellbeing, social support, problems with sleep, memory, pain, gastrointestinal/urinary functioning, and ability to perform activities of daily living (ADL). 

The HSP sample more frequently lived alone. Overall, the HSP sample reported lower life satisfaction, lower mental wellbeing and lower social support, as well as poorer memory and sleep, compared to controls. Furthermore, the HSP sample more frequently reported musculoskeletal pain, constipation, and urinary incontinence compared to controls. There was no difference between samples in frequency of physical activity and alcohol and tobacco use. Men with HSP reported higher impact of HSP, lower life satisfaction, and less ability to perform activities of daily living compared to women with HSP.

Adults with HSP experience disease burden on a larger number of areas than previously documented, and men with HSP may represent a particularly vulnerable group.


All of the comparisons in this section are with the control sample.

Participants in the HSP sample less frequently lived with a partner/spouse and more frequently lived alone. There was no difference between the samples in frequency of living with parents or children.

Study considers daytime drowsiness, frequent night awakenings, trouble falling asleep and waking up early. People with HSP reported more sleep problems on all items

Study considers chronic pain of >3 months duration in the past year. The most frequent pain sites are: feet, knees, lower back, and hips. People with HSP confirmed more frequent musculoskeletal pain, more frequent pain in the lower body pain sites and less frequent pain in the upper body pain sites.

Comorbid disease prevalence
The most frequently reported diseases were mental health problems, osteoarthritis, hand eczema, psoriasis, asthma and brain hemorrhage. People with HSP more frequently reported brain hemorrhage and psoriasis.

Gastrointestinal problems
The study considered constipation, alternating constipation and diarrhea, bloating,  heartburn, diarrhea, nausea and fecal incontinence. People with HSP more frequently reported much problems on alternating constipation and diarrhea, constipation and fecal incontinence.

Urinary problems
The study considered urinary incontinence. People with HSP more frequently reported urinary incontinence 

Oral health
There was no difference in oral health but people with HSP reported more frequent dental visits during the last year compared to controls.

Physical activity
Study considered the frequency of physical activity (daily, 2–3 times pr. week, once a week, less than once a week and never). There is no difference in frequency. Those with HSP spent more hours sitting daily compared to controls.

Medication use
The study considers the percentage of participants taking nonprescription medicines 1–3 times weekly: for general pain, constipation, headache and heartburn. People with HSP more frequently reported taking medication for constipation and general pain. Otherwise no difference.

Alcohol and tobacco use
There was no difference for participants drinking alcohol at least 2–3 times pr. week, never drinking alcohol and smoking daily.

Social support
The study looked at the percentage of participants who confirmed practical support and emotional support. those with HSP reported lower practical support and emotional support.

Mobility and activities of daily living
In terms of mobility, 35 % reported to walk without aids outdoors, while 56 % reported to walk without aids indoors. Around a third (31 %) reported to use a wheelchair indoors, while 45 % reported to use a wheelchair outdoors. The majority (80 %) confirmed having a driver’s license. 

Men reported more activities they could not perform without assistance compared to women. Fisher’s exact tests showed that the two activities men reported to be able to perform less frequently compared to women were simple household chores and laundry.

Frequency of falling
In the HSP sample, 47 % reported to have fallen in the last 3 months. There was no gender difference in frequency of falling and no significant age difference between those who confirmed having fallen and those who did not.

HSP sample medication use
In the HSP sample, 15 % reported using Botox injections, 10 % reported using a baclofen pump, and 33 % reported taking oral spasmolytics. Of these, the percentages of participants reporting having some or large effect of the medication were 83 % for Botox, 86 % for baclofen pump, and 82 % for oral spasmolytics.

Gender differences within the HSP sample
There were no significant gender differences on any of the variables shown in Table 2, except overall life satisfaction. Males rated significantly lower life satisfaction compared to females

Pure versus complex HSP
There was no difference between the proxy pure/complex types in terms of age, total body impact, pain, mental well-being, memory, gastrointestinal/urinary problems, number of additional diseases, BMI, or physical activity.


Compared to controls, persons with HSP reported lower scores on life satisfaction, mental wellbeing, as well as perceived practical and emotional support. Furthermore, compared to controls, persons with HSP reported more problems with memory, sleep, gastrointestinal and urinary function, and pain in the lower body. The results showed persons with HSP experience large total physical impact of their disorder. This total impact was significantly correlated with age, mental wellbeing, memory problems, gastrointestinal problems, extent of pain, number of co-morbid diseases, and life satisfaction. Thus, the disease burden for adults with HSP is multifaceted, and involves problem areas not previously documented.

Our results also showed considerable impact on activities of daily living for persons with HSP. Over half the sample reported not being able to take the bus, and nearly half the sample reported not being able to do more than basic house chores. They were surprised to find that age was only correlated with total physical impact and ability to perform ADL, and not with any other health-related variable. This implies that the burden of disease experienced by adults with HSP is considerable across the lifespan. Importantly, older participants reported less practical support compared to younger participants, possibly indicating a particular need for the older HSP group.

There are some important gender differences within the HSP sample. Specifically, men reported significantly higher overall impact of HSP, higher impact on sexual function, more ADL they could not perform without assistance, and lower overall life satisfaction compared to women with HSP. In summary, the results indicate that men with HSP represent a particularly vulnerable group in terms of overall HSP impact and quality of life.

Saturday, 29 April 2017

HSP Falls Study Participation

Here is another HSP research study that you can take part in.

Researchers at Plymouth University (in the UK) are studying more about how many people with HSP fall and what causes the fall. Understanding more about falls will help to raise the awareness of the condition with other healthcare professionals, determine what interventions may be useful and drive future research.

There is an initial questionnaire gathering information about participants and any falls that they may have had in the last three months. The second part of the study records any falls over a three month period. The study is titled "Falls in Hereditary Spastic Paraparesis: An Observational study of falls characteristics and predictors of falls and long lies" They define a long lie as when someone is unable to get up off the floor for an hour or more.

The study aims to survey as many people with Hereditary Spastic Paraparesis whether or not they commonly fall. It aims to identify how frequently people with Hereditary Spastic Paraparesis fall and to describe the characteristics of falls such as where people fall and what were they doing at the time. The survey will also assess whether there is a relationship between people’s reported symptoms, such as weakness, muscle stiffness and fatigue and the presence or absence of falls.

You can take part in the study if you have a diagnosis of HSP.

After you sign up you will complete a questionnaire about factors such as your age, diagnosis and family history, previous falls as well as your current symptoms and their perceived severity. Once you return these forms you will be sent diary packs. These will be used to indicate your falls and their characteristics on a daily basis. The falls diaries will ask about how you fell, what you were doing at the time and the perceived cause of the fall. Every 2 weeks you will need to return the falls diary sheets or an indication that you have not fallen in that period. We will collect the falls diary over a 3 month period.

The study is being completed by the researcher as part of her Master’s degree in Neurological Rehabilitation at Plymouth University and results will therefore be written up to form their thesis. The results of this study aim to be published in 2018 and presented at relevant national and local conferences. They will also present the results at UK HSP support group meetings.

To take part, the full details are right at the end of the March 2017 UK HSP support group newsletter:

I have signed up for this study, even though I havent had any falls as a result of my HSP. I queried if my no-falls data would be beneficial before signing up. The initial questionnaire is actually 7 short questionnaires covering different aspects. It didnt take me long to fill those in, and I will be using some of these questions in one of my autumn surveys!