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.  https://emedicine.medscape.com/article/306713-clinical

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. https://en.wikipedia.org/wiki/Clonus gives some info.  Once more there are videos of this, for example on the ankle: https://www.youtube.com/watch?v=UX75k8s5QUE and a faster one here https://www.youtube.com/watch?v=XVlo1IB-DAc, and for the legs https://www.youtube.com/watch?v=AnxbuKNYY-c and here https://www.youtube.com/watch?v=fdas2LZ_X7Q. You can also see plenty of people with their legs shaking - https://www.youtube.com/watch?v=vwgnCyGqZ5M https://www.youtube.com/watch?v=VW6kWT92xrs. Here's a description: https://www.youtube.com/watch?v=yXugT6hzCXk 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 https://www.ncbi.nlm.nih.gov/books/NBK396/). 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: https://www.youtube.com/watch?v=PPPgTq3L6k4&t=12s and https://www.youtube.com/watch?v=cC7uDy2DnQw&t=76s

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: http://hspjourney.blogspot.co.uk/2012/01/clonus_21.html, 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 (http://hspjourney.blogspot.co.uk/2016/11/survey-update.html) and from patientslikeme (http://hspjourney.blogspot.co.uk/2013/12/another-outlet-for-my-message.html) 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. (https://blog.fitbit.com/fitbit-badges/)

Toilet counting! Fitbit can remind/nag you take 250 steps per hour, to avoid staying stationary for long periods of time (https://help.fitbit.com/articles/en_US/Help_article/1878). 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:

English:
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 https://www.omim.org/phenotypicSeries/PS303350

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

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: http://hspjourney.blogspot.co.uk/2014/02/hsp-survey-results.html

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 https://www.patientslikeme.com/symptoms/show/7-fatigue?condition_id=493 (although you have to be signed in to see this).

There are two papers:
One from 1999: https://www.ncbi.nlm.nih.gov/pubmed/10368840 - with no abtract here. Some hunting shows the start of the article here: http://onlinelibrary.wiley.com/doi/10.1002/pri.1999.4.1.68/pdf 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: https://www.ncbi.nlm.nih.gov/pubmed/26806216 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, http://hspjourney.blogspot.co.uk/2017/02/2016-survey-results.html 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: https://moodgym.com.au/ - I found this on this podcast http://www.bbc.co.uk/programmes/b082hg9v - 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)

http://hspjourney.blogspot.co.uk/2014/03/stress-and-depression-tests.html
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)

http://hspjourney.blogspot.co.uk/2011/09/depression.html
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)

http://hspjourney.blogspot.co.uk/2014/04/stress-and-mood-management.html
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) 

http://hspjourney.blogspot.co.uk/2016/01/depression-and-assessing-yourself.html
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

http://hspjourney.blogspot.co.uk/2013/06/agm-looking-after-yourself-liz-redmond.html
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: 

http://hspjourney.blogspot.co.uk/2016/02/2015-survey-results.html
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

http://hspjourney.blogspot.co.uk/2014/02/hsp-survey-results.html
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:
https://www.amazon.co.uk/dp/B071VDMPJ2. 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:
https://www.abilitynet.org.uk/news-blogs/how-do-alexa-and-amazon-echo-help-disabled-people

Another article on how Alexa could help all kinds of people:
https://verysmartgadget.com/amazon-echo-people-disability/

Just for clarity, I dont have one of these.

Update 28/9: Another, more comprehensive system: http://www.zdnet.com/article/trusense-aging-in-place-system-passively-monitors-independent-seniors/

Tuesday, 12 September 2017

2017 Survey Now Open

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:
https://www.surveymonkey.co.uk/r/ALHSP2017

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!

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: http://hspjourney.blogspot.co.uk/2017/02/physical-activity-in-rare-conditions.html. 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 http://www.beachwheelchair.com/paraladder.htm - 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 (https://www.facebook.com/groups/19469684343/) or page (https://www.facebook.com/hspgroup.org/)

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: http://hspgroup.org/index.php/meetings/68-saturday-1st-july-2017-annual-general-meeting-tally-ho-conference-banqueting-centre-pershore-road-birmingham-b5-7rn

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: http://www.gigsandbands.com/potato-pants-festival-2017-review/ (with loads of pics)
Music 1: https://www.youtube.com/watch?v=cEHhorCYeM8&t=16s
Music 2: https://www.youtube.com/watch?v=-LH187HkZIc&t=1s

The original potato pants story: https://www.youtube.com/watch?v=56XdjtrpZlo&amp
Where else the idea is going: https://www.youtube.com/watch?v=ppJcPnPlpu0

 


Wednesday, 7 June 2017

Report: Juggling care and daily life

I take part in rare barometer voices surveys (http://www.eurordis.org/voices#studies). Recently the questionnaire was about balancing the different aspects of life with a rare disease. You can read the full report here: http://download.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf

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.


Employment:

  • 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!)

Shoes:















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

Trainers















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: https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0. 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.

Results

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.

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

Pain
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.

Discussion

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: http://hspgroup.org/images/Newslink/March2017.pdf

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!

Tuesday, 18 April 2017

Other conditions

This post provides a load of information about conditions that are mis-diagnosed for HSP. If you do not have a certain diagnosis this information may help open other avenues for you. I have given the support groups a UK focus. Information on symptoms has been taken from the NHS website, with some info from the various support group links below. Conditions included below are:

Ataxia

Friedreich's ataxia (FA)

Spinocerebellar ataxias (SCA)

Motor neurone disease (MND)

            Amyotrophic lateral sclerosis (ALS)

Progressive muscular atrophy (PMA)

Primary lateral sclerosis (PLS)

Muscular dystrophy 

            Duchenne MD (DMD)

Becker muscular dystrophy (BMD)

Cerebral palsy 

Spastic cerebral palsy (CP) - can be Hemiplegia, Diplegia, Quadraplegia

Multiple sclerosis (MS)

Arthritis (Arth)

Osteoarthritis

Rheumatoid arthritis

Charcot-Marie-Tooth disease (CMT)

Diabetes (Diab)

Vitamin B12 deficiency (B12)

Peripheral neuropathy (PN)


I have used the text from below to compile this table which shows how the symptoms differ between conditions, using the abbreviations above along with PHSP: Pure HSP, and CHSP: Complicated HSP. (I'll re-visit this table with updates as time goes by)

  PHSP CHSP FA SCA MND DMD BMD CP MS Arth CMT Diab B12 PN
Weak legs/walking issues ü ü ü ü ü ü ü ü ü ü ü ü ü ü
Stiffness/cramps ü ü ü ü     ü ü ü ü ü      
Balance/co-ordination
ü ü ü ü       ü         ü
Weak grip         ü                  
Learning/memory issues   ü   ü   ü   ü ü       ü  
Swallowing   ü ü ü       ü            
Vision/hearing issues   ü ü ü       ü       ü ü  
Speech issues   ü ü ü ü ü   ü            
Bladder issues ü ü
ü

 
ü     ü    
Fatigue ü ü             ü     ü ü  
Pain                   ü       ü
Bruising/Itching/Wound healing   ü                   ü ü  
Numbness/sensation/tingling hands/feet ü ü ü ü         ü   ü   ü ü
Diabetes     ü                 ü    
 

Ataxia

Ataxia is the name given to a group of neurological disorders that affect balance, coordination, and speech. There are many different types of ataxia that can affect people in different ways. 

Friedreich's ataxia

Friedreich's ataxia is the most common type of hereditary ataxia. Symptoms usually first develop before the age of 25, although it can develop in people much older than this.
Signs and symptoms of Friedreich's ataxia can include:
·                     problems with balance and co-ordination, often causing wobbliness, clumsiness and frequent falls
·                     increasingly slurred, slow and unclear speech (dysarthria)
·                     increasing weakness in the legs – many people find walking difficult and need to use a wheelchair after around 10 to 20 years
·                     difficulty swallowing (dysphagia)
·                     abnormal curvature of the spine (scoliosis)
·                     total or partial vision loss and hearing loss 
·                     diabetes 
·                     thickening of the heart muscles (hypertrophic cardiomyopathy), which can cause chest pain, breathlessness and an irregular heartbeat
·                     loss of sensation in the hands and feet (peripheral neuropathy)
The symptoms of Friedreich's ataxia usually get gradually worse over many years. People with the condition tend to have a shorter life expectancy than normal. Many people live until at least their 30s, and some can live into their 60s or beyond.

Spinocerebellar ataxias

Spinocerebellar ataxias (SCAs) are a group of hereditary ataxias that often don't begin until adulthood, affecting people from the age of 25 up to 80, depending on the type of SCA. Occasionally, some types of SCA begin in childhood.
The symptoms vary depending on the type of SCA. They can include:

·                     problems with balance and co-ordination – many people find walking difficult and need to use a wheelchair after a few years
·                     increasingly slurred, slow and unclear speech (dysarthria)
·                     difficulty swallowing (dysphagia)
·                     muscle stiffness and cramps
·                     loss of sensation in the hands and feet (peripheral neuropathy)
·                     memory loss and difficulties with spoken language
·                     slow eye movement, which means people have to move their head to compensate
·                     reduced bladder control (urinary urgency or incontinence)


Mission 
We will fund and promote research with the aim of bringing about treatments and a cure for ataxia by 2020. We want a cure for this generation. Until this is achieved, we will do all that we can to provide support services to the families and carers of people with ataxia to enable those with the condition to have the highest possible quality of life. 
Supporting people living with ataxia 
  • We provide a variety of information on ataxia, and its impact, and practical implications of living with ataxia and publish a quarterly magazine.
  • We have a Helpline and Advocacy Service to support people around ataxia related issues.
  • We facilitate peer support among those affected by ataxia (patients, families and carers) by providing opportunities for people to meet at Annual and Regional Conferences and through our Branches & Support Group network, which has grown from 10 to 70 groups in the last 8 years. In addition we hold, information seminars and other events.

Motor neurone disease

Motor neurone disease is a rare condition that progressively damages parts of the nervous system. This leads to muscle weakness, often with visible wasting.
The symptoms of motor neurone disease begin gradually over weeks and months, usually on one side of the body initially, and get progressively worse. Common early symptoms include:
·                     a weakened grip, which can cause difficulty picking up or holding objects
·                     weakness at the shoulder that makes lifting the arm difficult
·                     a "foot drop" caused by weak ankle muscles
·                     dragging of the leg
·                     slurred speech (dysarthria)
The condition isn't usually painful.
The condition can affect adults of all ages, including teenagers, although this is extremely rare. It's usually diagnosed in people over 40, but most people with the condition first develop symptoms in their 60s. It affects slightly more men than women.
Motor neurone disease is a severely life-shortening condition for most people. Life expectancy for about half of those with the condition is three years from the start of symptoms. However, some people may live for up to 10 years, and in rarer circumstances even longer.

There are four main types of MND, each affecting people in different ways. There can be a great deal of overlap between these types, which may make it difficult to provide an exact diagnosis.

Amyotrophic lateral sclerosis (ALS)

This is the most common form, with both upper and lower motor neurone involvement. This form of the disease is characterised by weakness and wasting in the limbs. Someone may notice they are tripping when walking or dropping things. Average life expectancy is from two to five years from onset of symptoms.

Progressive muscular atrophy (PMA)

PMA affects only a small proportion of people, mainly causing damage to the lower motor neurones. Early symptoms may be noticed as weakness or clumsiness of the hand. Most people live for more than five years.

Primary lateral sclerosis (PLS)

A rare form of MND involving the upper motor neurones only, causing mainly weakness in the lower limbs, although some people may experience clumsiness in the hands or speech problems. Life span is usually more than 10 years from onset of symptoms. As symptoms develop, some cases may be re-diagnosed as ALS.


The Motor Neurone Disease Association is the only national charity in England, Wales and Northern Ireland focused on MND care, research and campaigning.
Our vision is of a world free from MND.
OUR MISSION:
  • We improve care and support for people with MND, their carers and families
  • We fund and promote research that leads to new understanding and treatments and brings us closer to a cure for MND
  • We campaign and raise awareness so the needs of people with MND and everyone who cares for them are recognised and addressed by wider society


Muscular dystrophy 

The muscular dystrophies (MD) are a group of around 60 inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of disability.
MD is a progressive condition, which means it gets worse over time. It often begins by affecting a particular group of muscles, before affecting the muscles more widely.
Some types of MD eventually affect the heart or the muscles used for breathing, at which point the condition becomes life-threatening.

There are many different types of MD, each with somewhat different symptoms. Not all types cause severe disability and many don't affect life expectancy.

Duchenne MD – one of the most common and severe forms, it usually affects boys in early childhood; men with the condition will usually only live into their 20s or 30s
A child with Duchenne MD may:
·                     have difficulty walking, running or jumping
·                     have difficulty standing up
·                     learn to speak later than usual
·                     be unable to climb the stairs without support
·                     have behavioural or learning difficulties

Becker muscular dystrophy - closely related to Duchenne MD, but it develops later in childhood and is less severe; life expectancy isn't usually affected as much. A child with the condition may:
·                     learn to walk later than usual
·                     have muscle cramps when exercising
·                     struggle with sports at school
During late childhood or early adulthood, people with Becker MD often find they have difficulty running, walking quickly and climbing stairs. As they get older, they may also find lifting objects above waist height difficult. 


Muscular Dystrophy UK (previously known as the Muscular Dystrophy Campaign) is the charity bringing individuals, families and professionals together to beat muscle-wasting conditions.

Our vision

A world with effective treatments and cures for all muscle-wasting conditions and no limits in life for individuals and families affected.
  • We support high quality research to find effective treatments and cures and won’t stop until we have found them for all muscle-wasting conditions
  • We are leading the drive to get faster access to emerging treatment for families in the UK
  • We ensure everyone has the specialist NHS care and support they need – the right help at the right time, wherever they live.
  • We provide a range of services and resources to help people live as independently as possible.


Cerebral palsy 

Cerebral palsy is the name for a group of lifelong conditions that affect movement and co-ordination, caused by a problem with the brain that occurs before, during or soon after birth. The symptoms of cerebral palsy aren't usually obvious just after a baby is born. They normally become noticeable during the first two or three years of a child's life.
Symptoms can include:
·                     delays in reaching development milestones – for example, not sitting by eight months or not walking by 18 months
·                     seeming too stiff or too floppy
·                     weak arms or legs
·                     fidgety, jerky or clumsy movements
·                     random, uncontrolled movements
·                     walking on tip-toes
·                     a range of other problems – such as swallowing difficulties, speaking problems, vision problems and learning disabilities
There are three types of cerebral palsy. The severity of symptoms can vary significantly. Some people only have minor problems, while others may be severely disabled.
:
Spastic cerebral palsy
This is the most common form of cerebral palsy which appears in around 75% of cases.
The most notable symptoms of spastic cerebral palsy are rigid limbs although the amount does very from case to case.  Movements tend to be stiff and jerky and as the condition becomes mature muscles may become shortened. The child may suffer from learning disabilities

Spastic cerebral palsy can also be sub-divided by the extent to which the body is affected:
Hemiplegia means that both the arms and legs of one side only are affected.
Diplegia means that both legs are affected however arms are not necessarily affected or only mildly.
Quadraplegia means that legs and arms are affected and may be in varying levels


Supporting children, adults and their families affected by Cerebral Palsy.

There are many organisations and charities which support children and adults with cerebral palsy and the dedication shown by these people, many who provide their time for free, is indicative of the people you will meet along the way. CerebralPalsy.org.uk provides support by offering impartial information on a broad range of subjects that people affected by CP should find useful.

Multiple sclerosis 

Multiple sclerosis (MS) is a condition which can affect the brain and/or spinal cord, causing a wide range of potential symptoms, including problems with vision, arm or leg movement, sensation or balance. It's a lifelong condition that can sometimes cause serious disability, although it can occasionally be mild. In many cases, it’s possible to treat symptoms. Average life expectancy is slightly reduced for people with MS.
It's most commonly diagnosed in people in their 20s and 30s, although it can develop at any age. It's about two to three times more common in women than men.

Symptoms of MS

The symptoms of MS vary widely from person to person and can affect any part of the body.
The main symptoms include:
·                     fatigue
·                     difficulty walking
·                     vision problems, such as blurred vision
·                     problems controlling the bladder
·                     numbness or tingling in different parts of the body
·                     muscle stiffness and spasms
·                     problems with balance and co-ordination
·                     problems with thinking, learning and planning
Depending on the type of MS you have, your symptoms may come and go in phases, or get steadily worse over time (progress).



We’re the MS Society – a community of people living with MS, scientists, campaigners, volunteers and fundraisers. We understand what life’s like with MS, and we support each other through the highs, lows and everything in between. And we’re driving research into more – and better – treatments. For everyone. Our goals are: Effective treatments, Responsive care and support, Preventing MS, Quality information, A strong community, independent lives, Supporting families and carers, Greater certainty about the future


Arthritis

Arthritis is a common condition that causes pain and inflammation in a joint.

Osteoarthritis

Osteoarthritis is the most common type of arthritis in the UK. It most often develops in adults who are in their late 40s or older. It's also more common in women and people with a family history of the condition. Osteoarthritis initially affects the smooth cartilage lining of the joint. This makes movement more difficult than usual, leading to pain and stiffness.

Rheumatoid arthritis

In the UK, rheumatoid arthritis affects more than 400,000 people. It often starts when a person is between 40 and 50 years old. Women are three times more likely to be affected than men.

Symptoms of arthritis

The symptoms of arthritis you experience will vary depending on the type you have.
This is why it's important to have an accurate diagnosis if you have:
·                     joint pain, tenderness and stiffness
·                     inflammation in and around the joints
·                     restricted movement of the joints
·                     warm, red skin over the affected joint
·                     weakness and muscle wasting


Arthritis Care is the UK’s leading arthritis charity offering information and support to everyone affected by arthritis. Arthritis Care provides a number of online and face to face services to ensure that no one faces arthritis alone. There are also branches and groups all over the country, where you can chat to other people with the condition, in a social setting and our helpline is here for a friendly chat.  No one should have to face arthritis alone.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited conditions that damage the peripheral nerves. It's also known as hereditary motor and sensory neuropathy (HMSN).
The peripheral nerves are found outside the main central nervous system (brain and spinal cord). They control the muscles and relay sensory information, such as the sense of touch, from the limbs to the brain.

People with CMT may have:
·                     muscle weakness in the feet, ankles, legs and hands
·                     an awkward way of walking (gait)
·                     highly arched or very flat feet
·                     numbness in the feet, arms and hands

The symptoms of CMT usually start to appear between the ages of five and 15, although they sometimes don't develop until well into middle age or later. CMT is a progressive condition. This means the symptoms slowly get worse, making everyday tasks increasingly difficult.

Support Group: http://cmt.org.uk/

 

Mission:  “Working to support those who are affected by Charcot-Marie-Tooth Disease”
Aims and Objectives: To offer assistance and support to those people who have Charcot-Marie- Tooth Disease. To promote research into the means by which CMT may be prevented and treated and to circulate the results of such research for the benefit of the public.

Diabetes

Diabetes is a lifelong condition that causes a person's blood sugar level to become too high. The main symptoms of diabetes include:
·                     feeling very thirsty
·                     urinating more frequently than usual, particularly at night
·                     feeling very tired
·                     weight loss and loss of muscle bulk
·                     itching around the penis or vagina, or frequent episodes of thrush
·                     cuts or wounds that heal slowly
·                     blurred vision
Type 1 diabetes can develop quickly over weeks or even days.
Many people have type 2 diabetes for years without realising because the early symptoms tend to be general.


Diabetes UK is the leading charity that cares for, connects with and campaigns on behalf of every person affected by or at risk of diabetes. We provide information, help and peer support, so people with diabetes can manage their condition effectively. We are one of the largest funders of diabetes research in the UK

Vitamin B12 or folate deficiency anaemia

Vitamin B12 or B9 (commonly called folate) deficiency anaemia occurs when a lack of vitamin B12 or folate causes the body to produce abnormally large red blood cells that can't function properly. Red blood cells carry oxygen around the body using a substance called haemoglobin. Anaemia is the general term for having either fewer red blood cells than normal or having an abnormally low amount of haemoglobin in each red blood cell.

Vitamin B12 and folate perform several important functions in the body, including keeping the nervous system healthy. A deficiency in either of these vitamins can cause a wide range of problems, including:
·                     extreme tiredness
·                     a lack of energy
·                     pins and needles (paraesthesia)
·                     a sore and red tongue
·                     mouth ulcers
·                     muscle weakness
·                     disturbed vision
·                     psychological problems, which may include depression and confusion 
·                     problems with memory, understanding and judgement

Some of these problems can also occur if you have a deficiency in vitamin B12 or folate, but don't have anaemia. Most cases of vitamin B12 and folate deficiency can be easily treated with injections or tablets to replace the missing vitamins.

Peripheral neuropathy

Peripheral neuropathy develops when nerves in the body's extremities – such as the hands, feet and arms – are damaged. The symptoms depend on which nerves are affected. The main symptoms of peripheral neuropathy can include:
·                     numbness and tingling in the feet or hands
·                     burning, stabbing or shooting pain in affected areas
·                     loss of balance and co-ordination
·                     muscle weakness, especially in the feet
These symptoms are usually constant, but may come and go.

I cant find a support group for this specifically, but these links might be useful: