Over 40 people attended the 2008 HSPRF Workshop at Concord Hospital in Sydney. The Annual Workshop was held at Concord Hospital in conjunction with the AGM in October, 2008.
Managing Spasticity – recent experiences: Steve Lunn & Col Harris, members of the HSPRF Community
Steve described various treatments he had tried over the years, all of which had limited effect. Physiotherapy had not produced satisfying results. He was assessed for a Baclofen pump but it just caused too much weakness.
Recently Steve came to the conclusion that he needed to get fitter and so saw an exercise physiologist (read more about them here) who watched him walk and did various assessments. He gave Steve a program of stretching and strengthening exercises specifically designed for long-term benefits to his comfort and mobility. The program combats stresses to parts of the body caused by increasing use of a walking stick. This is designed to postpone worsening of symptoms as HSP progresses.
The program includes use of a rowing machine, weights and cycling. There were some hip exercises as well, similar to pre hip replacement exercises. Steve reported the program was interesting and satisfying, acknowledging that motivation has been an issue for him when it comes to getting enough exercise in recent times. The mix was not boring and more like the sport he had had to give up and this was improving his depression somewhat too. The more he did, the better the result, but even 20 minutes per day was beneficial. An hour was more so. He is not as concerned with heart rate as improvement in gait, although the original reason for treatment was to increase fitness.
Steve was enthusiastic about the benefits already experienced with:
- better sleep (used to get prolonged clonus [restless legs])
- better flexibility which endures for a while after exercise
- better balance
- feeling a lot fitter and stronger
- able to get up and down much more easily
- improved walking, especially because of strength in his quads (thighs)
Col said that during his working life he did not lose many days’ work, but retirement brought increasing pain around the hips and stiffness. Days which involve more moving around result in less soreness and stiffness. He also finds that without regular exercise, he becomes stiffer and sorer. Col finds that it helps to have a reason to get up in the morning and needs to plan the next day before going to bed.
Col does 3 x 45min sessions of Aquarobics each week and finds this to be the most beneficial exercise. He sais that exercise in the heated water of a pool loosens him up and the trainer and other class members help to spur on his efforts. The water takes the body weight off his legs and holds him up removing the fear of falling.
The 45 minute session covers warm-up, brief periods exercising many specific muscles (all areas covered over a few days) and warm down. He also arrives 30 minutes early so that he has loosened up before the class starts.
He had a recent prolonged period (more than 2 months) without Aquarobics, which had him feeling very stiff and “barely able to walk”. Five days back doing Aquarobics produced significant improvement in his walking.
Editor’s Note: Hydrotherapy (movement and exercise in water) has long been recognised as a significant method of treating spasticity, as well as having many other therapeutic applications. Click on Mick’s photo in the Member Profiles on the homepage for another fan of aquatic exercise.
Cost Recovery
Medicare Australia has a program called “Enhanced Primary Care”. This provides a limited Medicare benefit for people with certain conditions, including HSP. It applies to 5 visits to certain health professionals per year and must be setup by a GP.
Activities such as Steve and Col reported on may be eligible for support. Ask your GP about it.
HSPRF Stem Cell Pilot Study – towards a cure: Greger Abrahamsen, Research Scientist, NCASCR, Griffith University
Greger presented a Powerpoint session on the stem cell pilot study.
Maintaining Good Mental Health – an overview: Dr. Anthony Harris, Psychological Medicine, Sydney University
Dr. Harris presented a Powerpoint session.
Developments in HSP Research – recent advances: Prof. Garth Nicholson, Neurogenetics, Sydney University
Prof. Nicholson referenced 2 Powerpoint presentations, here and here. A summary of his talk follows:
34 genes implicated in HSP have now been mapped. The most common gene involved with HSP, SPG4, which codes for the protein spastin, has now had 150 different mutations detected and new mutations will continue to be found.
So the likelihood of finding a cure is limited by the huge number of different genetic abnormalities causing the many diseases which could most accurately be referred to as the hereditary spastic paraplegias. It is likely that any cure will be mutation-specific, and there are already 150 different known mutations of this one gene. Consider that there are probably hundreds of genes involved, each with multiple mutations, and all doing different things to cause disease, and the scale of the quest for a cure becomes apparent.
There are three fundamentally different bases of this disease:
- Physical transport interruption and dysfunction in the nerve tissue and sheath enclosing it (Spastin)
- Energy supply disruption from the mitochondria (energy factories in the cell)
- Recycling of chemicals and substances that are produced and re-used is impaired
The long nerves that are fundamental to transporting were illustrated. Abnormal functioning in these nerves interferes with them doing their job of controlling muscles and muscle spasm (spasticity) results.
Prof. Nicholson commented on advances made with gene testing generally and the contribution of the HSPRF in funding the research behind the current gene testing service available from the Molecular Medicine Laboratory. He said now it is much easier for Australian HSP families to learn the causal mutation, screen asymptomatic members and avoid intergenerational transfer. More doctors are now interested in gene testing, making it easier for families to have children unaffected by HSP.
He showed early data from gene testing statistics at MolMed. These are mostly SPG4 mutations with a single SPG3A and no SPG6.
While the HSPRF/Griffith Pilot Study is based on olfactory stem cells he commented on advances with skin stem cells which can now be readily differentiated to nerve cells and that these would be easier to work with.
He spoke about the skin tissue research and its cost.