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

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!

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 (