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