AGM2013: Promoting Walking Ability (Alison Clarke)

This post is the fourth and final post about the UK HSP Support Group AGM. Alison Clarke is a physiotherapist from the Northern General Hospital in Sheffield.

Alison began her presentation by giving the four things which a person needs to be able to walk:
1) Each leg must be able to support the whole weight of the body.
2) You must be able to balance on one leg
3) You must have sufficient muscle power to be able to swing the leg & trunk forwards
4) You must have the ability to swing the leg forwards.

Alison observed that for HSP the main problem is not being able to swing the leg forwards, there are problems bending the leg, with swinging it forward, and with heel strike. People with HSP bring their weight forward, with excessive trunk lean. As a result people with HSP have short steps, walking is slow, requires lots of effort, and various compensations are made. Several people end up falling over backwards.

HSP affects the gait because the condition affects the muscle tone. This can cause pain, bring on joint stiffness and reduce balance. When muscles are not used they become shorter and become weak.

When you have some walking issues, this is the time to have a review with a physiotherapist.

Alison then went on to discuss walking aids. These include:
Sticks/poles
Crutches/gutter crutches
Walking frame
Rollator/gutter rollator
Wheelchair
FES

'Gutter' refers to the type where you would put your forearm into a 'gutter' rather than hold just with the hand. Alison observed that with frames and rollators it is important to consider choices of seats, handles and ferrules.

Sticks and poles are used to aid balance rather than support weight. For HSP Nordic walking poles can be useful as they keep your body upright and increase your momentum. Having two of these aids is better than having one as two aids will keep you more upright.

It is preferable to use your own muscles and balance to walk and move, but considering using aids is not negative.

It is important to choose your aids carefully, they should put less stress on your posture, give you less pain and give you more endurance.  More importantly, perhaps, is that aids improve your aesthetics - people who use aids look more like an average walker than those who don't use aids.

Aids also give you more access to places, can help you at work or at leisure, and give you confidence. They can be a positive thing.

If you move with your own muscles you will maintain the quality of your muscles and balance, and using aids will reduce this.

Conversely you need to use aids when you cannot do what you want to, perhaps because you are falling or tripping.

Therefore, its a balance - you will need to spend some time maintaining your muscles and balance, but also use appropriate aids when you are looking to enjoy yourself. Elbow crutches can be a good choice.

There was quite a bit of discussion around this balance between aids and self moving after the presentation. Generally people in the room felt they should have started to use aids earlier.

I asked when someone should make their first appointment at the physiotherapist. Alison advised that you should if you are showing any small signs. If you leave it too long it can be hard to reverse any habits that you've picked up.

AGM2013: Research Update (Dr Siva Nair)

The third paper presented was a research update on treatment, given by Dr Krishnan Padmakumari Sivaraman Nair of the Royal Hallamshire Hospital, Sheffield. Dr Nair indicated that he tended to abbreviate his name to Dr Siva Nair.

He indicated that HSP affects 1.3 in 100,000. He has been reviewing papers published about HSP, and identified that he had found 356 papers published since 1971, 142 in the last 10 years, and only 11 relating to treatment.

The databases he listed were:
AMED, http://www.ebscohost.com/corporate-research/amed
EMBASE, http://www.embase.com
PsycINFO, http://www.apa.org/pubs/databases/psycinfo/index.aspx
BNI, http://www.library.nhs.uk/help/resource/bni
CINAHL, http://www.ebscohost.com/academic/cinahl-plus-with-full-text

Dr Nair then went on to describe three treatments: FES, Botox and Intrathecal Baclofen, focussing on the latter.

Intrathecal Baclofen uses a pump and tube to deliver the muscle relaxing drug directly to the spine. One of the main issues is that it is very easy for the pump to deliver too much or too little drug. As an option, it is not one to be considered lightly.

Dr Nair posed the question why were there so few papers on treatment? A comparison with MS (I think) shows that about half of the papers are to do with treatments.  One factor is that there are many groups who are actively influencing research there. He suggested that there was no reason why this couldn't be true for HSP as well. There were four strategies he suggested for getting involved;

1 - Participate in consultation events.
2 - Collaborate - get involved in research
3 - Control the research by selective funding
4 - Control the research by becoming a member of a steering committee.

Dr Nair concluded by describing a research programme which he is currently seeking funding for. He wants to look at the use of FES in the community. Most FES research has been done in the lab and Dr Nair wants to look how it works for users in normal day to day use. He plans to measure walking, falls, quality of life etc. at the beginning, then give either FES or an AFO for 12 weeks, re-measure, switch treatment for a further 12 weeks, measure again and understand what people prefer. The study will take place in Sheffield and Salisbury. He will contact the HSP support group when funding is secured. He will be seeking participants.

Although Dr Nairs presentation had the least notes it gave me the most questions. Regular readers will know I've been identifying the number of research papers and I get a much larger number from one database. I noted that Dr Nair used the word paraperisis all the time and my search covers this and paraplegia. I didn't get a chance to chat to Dr Nair about this after his presentation.

In writing this post I was thinking about the involvement strategies, and was looking up about consultation events since I understood this the least. A quick search found that RareDiseaseUK have recently completed a consultation event about rare disease policy in the UK. http://www.raredisease.org.uk. Firstly this consultation closed May 2012, so I'm disappointed not to have found and responded. However the response document and other supporting stuff on the website is good, and these will form another blog post or two, and another organisation to join.

The main supporting report is here: http://www.raredisease.org.uk/documents/Website%20Documents%20/rare-disease-impact-report.pdf  There is also a report into the perception of funding:  http://www.raredisease.org.uk/documents/RDUK-Research-Funding-Report.pdf 

I could picture the other involvement strategies more in my head and I'll cover those on another post or three.

AGM2013: Getting the Correct Diagnosis (Prof Henry Houlden)

This is the second post covering the presentations given at the UK HSP Support Group AGM on 15th June.

Prof. Henry Houlden works at the National Hospital and gave an overview of HSP and the 'typical' case which he and his colleagues see at the hospital. He then went on to discuss various treatments and some current research, and finished with some observations about drugs.

There are two types of HSP - Pure and Complex. With pure HSP the three main areas to cover are legs, bladder and back pain. Requests for amputation of the legs is not uncommon and most patients have some bladder issues. Bowel issues are very common as well as bladder issues. With complex HSP a range of other issues also arise including Ataxia (affecting the balance), memory, seizures and deafness. HSP is caused by an error in the genes.

Generally HSP is passed down from the parents although occasionally HSP arises without any family history, which is called a "de novo" gene mutation. There are three different inheritance patterns - Dominant, where the presence of the mutation gives rise to the condition (most commonly SPG4, SPG3A and SPG31), Recessive, where the mutation is needed in both parents to give rise to symptoms (most commonly SPG11) and the rareest X-linked  inheritance. If you know which type of HSP you have you can predict potential problems in the future.

People have varying reasons for choosing to have a genetic test following a clinical diagnosis, and there are pro's and con's. Having the test can confirm the diagnosis, and can inform treatment, aid new research and examine the risk to other family members. The current cost of a genetic test is about £500.

The typical patient seen in the Neurogenetics Clinic (on Friday afternoons) had some onset in their 20's, usually tripping or scuffing. When they look back they realise they had some difficulties in sports at school, they may have some weakness due to the stiffness and it has taken some 10-12 years to end up with the correct diagnosis.

[Note added 19th July - Prof Houlden said that he would rather patients with HSP came to visit him wearing old shoes rather than new, so that he can see how much and where they are worn]

Treatments include: Physio on the legs and orthotics, Prescription of Baclofen, Self catheterisation, The use of high walking sticks, new hips and knees. Prof Houlden covered each briefly (excpet Physio, covered later in the day).

Baclofen can make you tired, and there are alternative medicines which you could use, but each has its side effects.

If there are bladder issues, then the first step is to treat underlying problems first, e.g. prostate. Bladder problems with HSP will not go away. There is also medication that can be prescribed to help, including Detrusitol, again with side effects.

The use of high sticks, like norwegian walking poles, can be a help because they keep the body more erect and they open the body up. The use of walking aids was discussed, and the view is that using walking aids is not the start of the "slippery slope" towards a wheelchair. The majority of patients who use walking aids wished they started using them earlier.  The patients who progress the best are those who keep themselves active, using their aids and get out and about. The patients who progress the worst are those who sit at home all day and do nothing.

Having replacement joints is an option, and the suggestion is that hips would be replaced before knees, there being a longer rehabilitation period for knee replacement for patients with HSP.

Prof Houlden had recently been to the International 2013 conference on spinocerebellar degenerations at the European SPATAX (http://spatax.wordpress.com/) where there are groups of researchers looking for HSP patients for trials. [There is a questionaire, which I'll try to attach to a future post, but the questions are at the bottom here]

There are no drugs that can reverse or halt the condition, but there's some movement on stem cell research, trying to reprogram stem cells into neurons, and then getting these to go to the affected cells. The reprogramming is possible, but no-one knows how to make them go to the affected cells.

Cannabis would be a helpful drug for HSP, as would Sativex (a cannabinoid medicine for the treatment of spasticity due to multiple sclerosis), but this is not licenced for HSP.

A discussion ensued about Botox, with some members of the audience finding it useful.

Some patients benefit from a Baclofen pump.

HSP is perfect for FES because all the nerves in the legs are intact.

I found this presentation very useful as it confirms much of the stuff I've been blogging about over the last couple of years. I wasnt aware that dogs could get HSP, but it seems they can. Of most use for me was the discussion about mobility aids, with potential for many blog posts about this. I'm also interested to hear about bowel problems, as I've not seen anything about that in the research papers or many of the websites I've looked at so far, which seems odd if it is such a common symptom.

HSP Questionnaire questions (with some minor abbreviation):

Name, date of birth, sex, address, phone number
Are you affected by HSP? Y/N
Would you be interested in participating in a research project? Y/N
Do you know the type of HSP you have or the gene? (please give details)
What age did you first have symptoms and what were they?
Please give details of any problems you have with your:
1) Legs (stiffness, walking problems, ulcers)
2) Hands (weakness, wasting, numbness, gripping, writing, doing buttons up, cramps, pain, ulcers)
3) Memory, eyesight, hearing, face weakness, passing water, bowels, breathing problems, other problems
Draw a family tree with dates of birth and details of who suffers from HSP

All information is kept confidentially and they only request details you are willing to give.

Responses should be sent to Professor Henry Houlden, Institute of Neurology, Queen Square, London, WC1N 3BG.

http://www.ucl.ac.uk/ion/nationalhospital