Which physiotherapy helps with HSP

In late 2020 an e-mail popped into my inbox from one of the German HSP groups - Ge(h)n mit HSP (Go with HSP) - this group have funded a study into which types of physiotherapy help those with HSP, and e-mail provided links to the results and various videos.

If you are keen to get straight to the point you can go reading now: https://www.gehn-mit-hsp.de/viewtopic.php?f=40&t=1493 - and if reading German is difficult, there is a translate tool at the bottom of the page. The research has been done by the University of Tübingen, in Germany, and the team includes; Prof. Dr. Ludger Schöls, Dr. Rebecca Schüle, Dr. Matthis Synofzik and Susanne Koch. (UK readers from the support group may remember that Rebecca Schüle came to the 2019 AGM) 

Each of the exercises is shown with instructions and videos on the TreatHSP.net website: https://www.treathsp.net/klinik/physiotherapie/uebungen - again, if you do not read German then you would need translate the page - and you'll need to have configured your browser to do this!

26 different exercises are given, and I give the headlines of each below. The full description tells you which muscles are being worked, and how to vary these. A video is given, and a set of photos to show you what to do. 

My top tip, if listening to German isnt your strong point (and you want to understand what is being said), watch the videos directly in YouTube and turn on closed captions/subtitles. YouTube can show those subtitles in another language. I have watched a couple like this, and it feels like hard work, but a good way of getting the information across - In YouTube the closed captions is one of the options on the bottom of the video. Once theses are turned on, you can use the setting button to change the language to auto-translate, and select the language you wish. 

Exercises:

1) Foot Tap - In this exercise, you put one foot on each box from a standing position and then take it back again. 

2) Box (side) - In this exercise, you step sideways over a box and back again. 

3) Hölzle - In this exercise, you step either forwards or sideways over small pieces of wood lying on the floor. 

4) Kneeling - In this exercise, you move one leg forward from the kneeling position and then come back to the kneeling position. 

5) Step up and down - In this exercise, you use both feet to climb a step and then descend again. 

6) Step down and up - In this exercise, you step down a step with both feet and then up again with both feet. 

7) Stair training - In this exercise, you climb up and down a flight of stairs.

8) Gear variants - In this exercise you train different gaits in order to specifically practice different areas of walking. 

9) Protective steps - In this exercise, you will repeatedly do large lunges in different directions, practicing self-restraint if necessary and preventing a fall. 

10) Knee rockers - Repeatedly bend your knees slightly and bounce back elastically.

11) Toe stand - In this exercise, you will repeatedly stand on tiptoe and then lower yourself back down.

12) Jump - In this exercise you will jump up repeatedly. Here you either jump on the spot, forwards or to the side.

13) Run - In this exercise, you jog in place and then forward.

14) Gait training - The aim here is to practice walking over long distances as daily as possible. 

15) On the ground and up again - In this exercise you go from a lying position to a standing position and back again.

16) Roofs - Repeatedly form a roof with the whole body from the four-legged position.

17) Chair back - Bend over in a chair with your legs straight; so stretch the back of the legs and lower back. 

18) Prone position on the couch - In this exercise, you lean on a couch or table and bend your knees repeatedly.

19) Warrior - With a large forward lunge, you stretch the hip flexors.

20) Straddle stance - In the straddle stance, you alternately shift your weight from right to left.

21) Cobbler pose - In a wide seat with the soles of your feet together.

22) Prone position - In this exercise, you can lie relaxed on your stomach.

23) Forearm support - From the prone position, prop yourself up on your forearms.

24) Hand rest - Support yourself from the prone position on your hands. 

25) Sliders in the supine position - In this exercise, you lie on your back and use a towel to pull one leg towards you and then straighten it.

26) Sliders in the supine position - In this exercise, you lie on your stomach and use a towel to pull one leg as close as possible to your body.

Reflections on these - I think these are a good set of stretches and exercises that can be done, provided that you're sufficiently mobile. There is a reasonable overlap with the muscles that I stretch in my daily stretches, but I might have to explore 15 and 22-24 in my stretches, and 3, 8 and 9 at other times.

Review of 2020

 Annual Review: 2020

Yet another year has passed, and again I take the opportunity to reflect on the various activities throughout the year. I'll only mention Coronavirus a few times!

Knowledge

2020 has been a bit of a hectic year for me, and I have not really been paying much attention to newly published research findings. I also know that many aspects of research have been slowed down as medical staff have been re-deployed to help with Coronavirus. Reviewing the 2020 publications will be on my early 2021 list!

Symptoms

My changes this year have been fairly subtle. I perceive that when looking back over the whole year there have been some changes, but they have occurred slowly and gradually. This year I have noted that my bladder and bowel are becoming more urgent in their demands for me to go to the toilet, which means that I might need to review my medication next year. I perceive that my walking speed is slower (as measured by needing to walk faster when taking my boys to/from school), and I know that I need to sit down after less time standing/walking than I have done previously. I think my flexibility and muscle strength are about the same, but I think they might be on the change soon. I had a telephone appointment with my neurologist this year. My next appointment will be 2021 rather than 2022.

This Blog

I'm really pleased with the continuing growth in readership of this blog. My audience remains broadly the same (predominantly UK, USA, Canada, Australia, and then European countries, particularly France and Netherlands, as well as Brasil and India). The most popular posts continue to be the questions for and results of my survey, as well as my general posts on research and particular HSP symptoms. 2020 also saw a high interest in my Coronavirus post from March.

I'm really pleased that blog posts continue to be linked to and used within other HSP and RareDisease communities and publications. Thank you to all my readers, including those that give comments appreciating what I have to say. Feedback like this gives me another reason why this is a worthwhile thing to do. Thank you to anyone that makes a comment or connects up with me in some other way. 

Survey

The annual pattern of my surveys is well established. My 2020 survey has a similar number of responses to my 2018 and 2019 surveys. The 2020 survey uses the same path as 2019, where the survey is available in several languages, so people can answer in their own language. There has been more collaboration across countries getting the questions right. The new feature for this year is to try to identify needs, and I have tried to capture some Coronavirus perspectives as well. Results will be out on 28th Feb after the majority of analysis during January.

Community Contribution

HSP Community activities for 2020 included:

• Starting up a YouTube channel for the Support Group
• Encouraging digital meetings for the Support Group
• Carrying on with the Enable disability network at work
• Representing the UK at EuroHSP
• Analysing and reporting the results of my survey to share with the HSP world
• Continuing this blog and posting/discussing HSP things on twitter
• Working with PARC on the latest grant application

The main element of my community contribution comes from being chair of the HSP support group. Whilst we are getting various issues resolved, there are still many to go. I'm working with the rest of the trustees to ensure that the group continues to support its members in the most appropriate way.

Understanding Upper Motor Neuron Health - Dr Ozdinler

Back in November Dr Hande Ozdinler gave a presentation to the UK HSP Support Group via Zoom.

Her work has generally been focussed on ALS, which is another type of motor neuron disease, but she brings a useful broad perspective on the health of upper motor neurons. In HSP it is mainly the upper motor neurons which are affected, whereas with SMA (spinal muscular atrophy) it is mainly the lower motor neurons. People with ALS are affected in both upper and lower motor neurons. 

Looking at these conditions which affect the upper motor neurons, we know that those neurons degenerate slowly over time. There are two different areas for that degeneration. Intrinsic issues are those which occur within the neurons themselves, perhaps from a genetic mutation or disruption of messaging. Extrinsic issues occur outside the neuron, perhaps the local environment where the neuron sits is not right.

The majority of the presentation looked at the intrinsic issues. Not only do the upper motor neurons degenerate, there is also degeneration of the connection between the brain and the neuron. This degeneration means that messages cannot pass as easily from the brain to the nerve, preventing or disrupting initiation of movement and the modulation of motor function.

Overall, the degeneration of the neurons accumulates over time, and eventually reaches a point beyond which the neuron cannot function any more. Early detection is useful because it gives the most time to be able to help the cells before they get to the point when they can no longer function.

They have developed a number of mouse models for ALS, and there are similar mouse models available for some types of HSP. The mouse has similar motor neurons as a human, and the functioning of the cells is identical. This makes them good for improving our understanding of the upper motor neurons. Part of the model development has included making the upper motor neurons fluorescent, which allows the cells of interest to be identified more easily, and to look at them in great detail. By looking over time they can see how the neurons degenerate, and see how their behaviour changes over time. 

They also have put forward that upper motor neuron survival should be one of the key indicators for studies, and the fluorescence helps measure this. There are drug discovery pathways to seek out those which can improve the health and integrity of upper motor neurons. 

Some of the proteins involved in upper motor neuron function are secreted into blood, and this offers the potential for a biomarker. Examination of the proteins in the blood should be able to give information on the timing and extent of function loss in the neuron, and identify the underlying cause of the loss.

With understanding of the cause of the loss comes opportunities to begin to formulate treatment strategies. Existing drugs which help that underlying cause in other conditions can be investigated in the case of upper motor neuron degeneration. It is likely that there would be different drugs for different types of upper motor neuron problems, and this is heading towards personalised medicines.

Another aspect they have been working on is using a big data approach to understand the functions affected by the motor neuron degeneration. Essentially by looking at which proteins interact with each other, they can identify a family tree of protein to protein interactions. This moves the focus away from looking at the mutated/absent/over-produced protein and understanding the resulting impacts on those protein to protein activities. The process identifies important functions rather than important proteins, and that opens up different paths in the drug discovery processes and the gene delivery process. They have come a long with with this process on ALS, and they have just started looking into HSP and PLS.

Overall, this was a really useful presentation. There was a lot of technical information given, but my key take-aways are that work done in one condition which affects upper motor neurons easily has potential for help other similar conditions. I was very pleased to hear about the cross-condition work and these new ways of thinking about drug discovery and the specific targeting of medicines.

The image below is a part of a screen shot from the presentation, showing some of the cross-condition work, and of course HSP is grouped into the 'Other' category on the right!

   

Rare Showcase 2020 Lightning Talk

Today I took part in a lightning talk at the Findacure virtual Rare Disease Showcase.

Findacure have been hosting rare disease events for a number of years, and regular readers may remember that I went to their drug repurposing conference in 2016 (yes, there are posts here about that). One of the support group trustees suggested that I talked about the needs identification which I'm covering in this years survey, and that idea was liked by Findacure, so I was up.

Regular readers will note that I usually write up various points and observations from these meetings, however project commitments at work meant I was only able to attend today. I was working on a range of other support group activities this morning, so I was listening to a few of the other talks in the background.

My key takeaway from those talks were the discussions around how social media can be both a blessing and a curse. A study was being talked about where the participants were sharing their experiences during the trial on social media. The result of all the attention was that even those in the placebo arm of the trial showed changes, and hence the study couldn't demonstrate what it wanted to.

For the lightning talks round I was one of five presenters, and I volunteered to go first. There were a few teething issues with my technology which meant that I went a little faster than I wanted to and finished in 4 mins 26 seconds. It was really good fun to take part in!

I had taken the approach of going for five minutes, five things to say:

• What is HSP
• How does HSP affect people
• Available support networks
• The approach to needs identification
• Some early results

You are welcome to look at my slides here: https://drive.google.com/file/d/19kLBCvra33y0Vut5jH9WFxouywd8Kz8C 

The other four presenters were telling the stories of their rare disease experiences, and it was insightful to hear that actually those with rare diseases are often in the same boat - trouble with diagnosis, trouble finding information, trouble finding treatments. Everyone was really friendly, and there were some interesting questions at the end. In summary, great fun!

I'm hoping to get the recording of my five minutes for youtube!

I am quite pleased with my support group network map:

A week of publicity!

So, this last week or so has seen me being involved in a couple of publicity activities.

One of the other trustees at the support group had recently suggested that we put ourselves forward for a couple of things, and these have been developing nicely recently.

We said that I would be prepared to do a five minute talk in one of the lightning talk rounds at this years rare disease showcase, and out of many, I was selected to do this. In the last week or so I have been working out what to say and what to show. My topic (as suggested by our trustee) was around using technology to identify the needs of those with HSP, so a perfect excuse to draw together lots of HSP strings together, including some of the early results from my survey.

If you wish to watch, you can still sign up for the virtual conference: https://www.findacure.org.uk/rare-disease-showcase/, and my session is on Thursday afternoon. Having had a look at the agenda, there are a load of other excellent sounding talks, a few of which I should be able to attend whilst I am there.

Also, we said that we were happy to take part in the Student Voice competition, and I was paired up with a student to talk about my experiences with HSP. The competition is here: https://www.findacure.org.uk/student-voice-prize/. We had a good chat and I was able to share many aspects (including some other early survey results!), and we should find out soon the result of that competition soon. If that essay is the winner, then HSP will get a mention in https://ojrd.biomedcentral.com/

HSP on YouTube

 Since my latest venture becoming a YouTuber, I have been meaning to find time to watch various other relevant HSP things in order to report them here.

Finding that time seems to be somewhat challenging at the moment, so I am putting the various YouTube links here, and I'll come back another time to report them. There are two different channels which I mean to look at first:

ERN RND

The European Reference Network on Rare Neurological Diseases (ERN RND) have run a series of webinars over the summer, several of which are relevant to HSP. Each webinar was broadcast on a separate day.

There are five that caught my attention, which I have put the titles and links to in this table below.

Title	Link
Environmental modifiers in Hereditary Spastic Paraplegia	https://www.youtube.com/watch?v=GlmsbKSLTOA
Gait rehabilitation in people with HSP	https://www.youtube.com/watch?v=xR_7A-JVB-E
How to assess and manage spastic gait in rare diseases?	https://www.youtube.com/watch?v=sqznUcJXGsI
Hereditary Spastic Paraplegia (HSP) clinical disease course	https://www.youtube.com/watch?v=vEh4JXi3f9E
Treatment of spasticity in HSP	https://www.youtube.com/watch?v=NzceL8JDwes

There's about 5 hours of watching here. They also have videos on other conditions than HSP, and you can see the full details on their channel: https://www.youtube.com/channel/UCLpEdEyhGnQpdmLLzqNXkTg/videos 

SP Foundation

The Spastic Paraplegia Foundation ran their annual conference on-line, and have uploaded videos of this onto their channel. Their conference ran over three days, and I have included the relevant links into the table below:

Title	Link
SP Foundation: Virtual Conference Day One June 26, 2020	https://www.youtube.com/watch?v=kNxbhCuAOj0
SP Foundation: Virtual Conference Day Two June 27, 2020	https://www.youtube.com/watch?v=IFUBvOZIpbA
Path to Improve Upper Motor Neuron Health	https://www.youtube.com/watch?v=MC6NORfD9uk
Genetic Topics in HSP & Related Diseases	https://www.youtube.com/watch?v=_Zd3Kp5n7eI
HSP: Understanding What's Wrong So That We Can Fix It	https://www.youtube.com/watch?v=C3EmaLMSGTY
Research Advances in the HSPs	https://www.youtube.com/watch?v=61U-Xm42N6o
A Multimodal Strategy to Finding a Cure for an Ultra-rare Disease	https://www.youtube.com/watch?v=nDOyw7qX_uw

There is a video each for days one and two of the conference, and (as far as I can tell) the third day has been split into separate presentations. Overall there is about 9 hours watching here as well. They also have other videos on their channel: https://www.youtube.com/c/SpasticParaplegiaFoundation/videos 

This includes videos from the past three years, and it is worth watching the Q&A with Dr Fink, as these give some great pieces of information.

(p.s. I dont know what happened to October, all of a sudden we have arrived in November! I was planning to put this post up in late October, so that my survey launch post got a long time as most recent post! It makes Oct 2020 only the second month when I have posted just the once - April 2011 being the other one) 

2020 Survey Open

Hello - it is that time of year again!

I am pleased to announce that my 2020 survey is now open. This year questions are available in English, Italian, Dutch, French, Spanish and Portuguese. Click on the relevant link in the table to below to access the questions in that language.

The focus for this years survey is: 

• Participation and Activities
• Needs for those with HSP
• Access to healthcare

Similar to recent years the analysis of answers will take into account both mobility and wellbeing. I will collect answers until approximately the end of 2020, with results published on Rare Disease Day 2021 - Sunday 28th February.

As with previous surveys only "name" and "country" are required questions. Answer all others that you want. The survey is a similar length to those in previous years, so hopefully would take a similar time.

For the "needs for those with HSP" questions, I am seeking your opinions on what types of information are most important, which makes a change from the usual factual style of questions. I hope that these questions work well!

Language	Link	Responses 3 Jan
English	https://forms.gle/GdYMemqa6qwrmEEz5	176
Portuguese	https://forms.gle/rACyCU77c9xvjWa87	66
French	https://forms.gle/wS2ao4quXwU1r9ax7	47
Dutch	https://forms.gle/UtYyGDG4GPBj8hh79	28
Italian	https://forms.gle/yttKzSpfVzfrgpZN9	11
Spanish	https://forms.gle/LBWPcMEz6PA5trnD6	6

3rd January

Just starting to look at analysis now. Compared with last year I have:

More responses from: Netherlands

Similar number of responses from: Belgium/Italy/France/Canada

Fewer responses from: UK/USA/Australia/Spain/Brasil

I am happy to have more results in the next few days - especially from those areas with fewer responses!

23rd December - Brief Analysis of ~200 answers.

Here are some results from ~200 answers in English and Portuguese. I would love more answers, a few more will take me over 300 in total. People in UK, USA and Brasil form the bulk of people in this analysis.

About 80% of people consider themselves to be disabled, with similar proportions in all areas of the world.

Some 15-20% of people consider they know HSP very well, with another 40% knowing it well. Most of the remaining 40-45% know HSP somewhat rather than not at all. People feel that healthcare professionals do not understand what it is to live with HSP very well, with 10-15% understanding very well, 15% understanding well, and almost 75% somewhat (<50%) or not at all (~25%). Understanding of HSP seems lower in Brasil than in UK/USA. Nearly 40% were not given a description of HSP when diagnosed, with fewer in UK getting description than in USA/Brasil.

Some 15% of people have had surgery for their HSP, with the two most common types being tendon release surgery and placement of a baclofen pump. Surgery seems most prevalent in USA and Australia.

Some 60% of people have had fewer appointment as a result of Covid-19, and only 5% having more appointments. The availability of digital appointments has increased as a result of Covid-19. Almost two thirds say they were not available before, reducing to around one third after. Before Covid-19 only 15% were accessing digital appointments, increasing to about 55% after. The availability and take-up of digital appointments has been greatest in USA and smallest in Brasil. The key advantage of digital appointments is reduced effort travelling, and the key disadvantage is having less chance to show symptoms.

25th November - Well over 250 now!

8th November - Just hit 200 results. Here are a few early results:

• Over 50% feel the extent or severity of their symptoms was not believed by medical professionals
• Over 50% feel they did not get adequate support because they have not been taken seriously
• Over 50% did not receive a description of HSP when diagnosed with it.

Nearly 2/3 of people have had fewer healthcare appointments due to Covid-19, but there has been a big uptake in digital appointments. Over 50% feel face-to-face appointments are better than digital. The key benefit of digital appointments is reduced effort travelling. The key disadvantage is less chance to show symptoms.

Living with HSP is the most important category of needs, and the most important need is:

• Stretches and exercises that help. 

Other key needs are: 

• treatment options for spasticity,  
• information on improving mental health/wellbeing, 
• information on accessing relevant healthcare professionals 
• an explanation of HSP on diagnosis
• predicting how HSP will progress in individuals 

22nd October - Well on my way to the first 100 results. Thanks!

Clinic Visit, Baclofen and Symptoms Update

 Hello,

I realise that there have been quite a few Symptoms Update posts from me of recent, and I wonder if that in itself is an indicator of a change in my rate of progression, a change in my perception of my progression, or if there is some other factor. I dont suppose I'll know!

Anyway - earlier I had my bi-annual appointment with the HSP clinic at the National Hospital for Neurology and Neurosurgery in London. Travel for this appointment was much easier and much less interesting this time, because it was a telephone appointment!

We generally talked around my symptom changes (more on that below) and about what would be the right change to spot that would warrant me starting to take Baclofen. It appears that this is a bit of a balancing act. It was suggested to me that Baclofen can be used to make me feel more comfortable, indicating that I shouldn't start taking it until I begin to feel some level of discomfort. Looking at various websites Baclofen works by reducing the transmission of nerve signals, thereby reducing any underlying instructions to tense. It appears that many people are affected by side effects from Baclofen, and it seems there is a three-way balancing act:

• Taking enough to cause the muscles to allow themselves to relax
• Not taking so much that the relaxation is more than is wanted
• Balancing these two against negative side effects.

It would seem that if you take Baclofen an hour or so before doing stretches then these stretches would be more beneficial as the Baclofen gives the muscles a chance to stretch longer/deeper.

An initial dose might be 5mg (half a tablet) once a day, so that the body can get used to this new drug, and then increasing the dose up to perhaps 10mg three times a day. The maximum is 100mg over a day, so there is plenty of variation possible in working out the best approach, and when to take those doses in order to get the most out of it.

We talked in general terms about my stretches, and I described that I have been modifying my stretches depending on which muscles feel stiffest. It is probably a good idea to have a review with the physiotherapist, just to make sure that I'm still doing the right sort of thing.

On the stretches front, I said that when I went camping over the summer I didnt do my stretches, and that by the end of that holiday I was starting to feel some discomfort in my legs, particularly my calf muscles. They were feeling tight and uncomfortable. Once I finished camping I re-started my stretches and the discomfort has gone away. It is my view that my stretches are really important to keep my mobility going as long as possible. 

I also explained about the level of activity which I do, and how I do need to stop for a rest every now and again, and I feel I may be on the verge of needing one walking stick. Essentially HSP isn't stopping me do anything I want, sometimes it takes me a little longer to do it. (I noted that I cannot really run, but equally I don't really want to run either). I also think that keeping active and moving about is important in keeping my mobility going as long as possible.

The general conclusion from this chat was that I seem to be doing the right things. Lower back pain was mentioned, which is something which many suffer from. The suggestion was that the lower back pain may come from your body having to use different muscles to walk as mobility decreases and legs become stiffer, so that is another thing for me to look out for. I was advised to keep an eye out on my posture whilst sitting. This is something I'm doing anyway because my job involves using a computer all day, and working at home during coronavirus, has meant that I've reconfigured my desk to be better, and I've bought a better chair to use. Sitting posture has also been mentioned to me before, back at previous consultations, and we pick up on that in Pilates as well.

Summary: Still not ready for Baclofen, Review stretches with Physio, Keep active, Keep stretching, Posture!

  

2020 AGM - Rehabilitation and Physical Activity in HSP - Dr Gita Ramdharry

For the 2020 AGM the technical presentations were held digitally via the Zoom platform, and each one was held on a different day. This blog post covers the third, Rehabilitation and Physical Activity in HSP, presented by Dr Gita Ramdharry from the Queens Square Centre for Neuromuscular Diseases in London.

Physiotherapy 

Gita began by outlining some of the aims of physiotherapy for HSP. A key part of this is understanding walking patterns, and how HSP varies peoples walking pattern. They monitor gait by looking at the amount of movement in muscles and joints, and compare those with HSP against those without. There are two types of muscle stiffness - active stiffness, where there is spasticity and spasms in the muscle, which is caused by issues in the nerve pathway - and passive stiffness, where the muscle tissues become stiff or stuck-down, with stiffer muscles becoming shorter. 

They found, as an example, that during walking the knee does not bend as much for those with HSP. One of the factors leading to this was passive stiffness in the calf muscles. Passive stiffness can be relieved by stretches and splinting, whereas medication (e.g. Baclofen) can relieve active stiffness. Another factor affecting the knee movement was weakness of the calf muscle - if you dont get as much of a push up from the calf muscle, the knee doesnt bend as much. Weakness was also found in other muscles as well. Strengthening exercises can be used to regain some strength in muscles, for example using a resistance band (Gita mentioned Theraband: https://www.theraband.com/), weights, other exercises or functional electrical stimulation (FES). Physiotherapy for those with HSP is a combination of managing stiffness with either stretches or medication (depending on the type) and undertaking exercises to keep muscles strong.

Fitness and Activity   

Next Gita talked about general fitness and activity, and aerobic exercise, noting that physical inactivity is responsible for 1 in 6 deaths in the UK (https://www.gov.uk/government/publications/physical-activity-applying-all-our-health/physical-activity-applying-all-our-health). Gita also found a study into Charcot Marie Tooth (CMT - a related condition to HSP) showing that there is a relationship between peoples body mass index (BMI) and the amount of time they do nothing (i.e. are sedentary) irrespective of if they had CMT or not. She has found that there hasn't been much research done into the benefits of aerobic exercise in those with HSP.  She reported a study undertaken in Norway (https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0) which showed that people with HSP spent more of their day sitting than those without HSP, and the next element is to look at the impact of this inactivity.

A recent study looked at the impact of impact of inactivity on symptoms of those with HSP from Covid-19 lockdowns in the Nederlands (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339095/). The study showed that where people carried on with physical activity as before lockdown there wasnt much change in their symptoms. However, people who said that they were less active during lockdown reported worse symptoms. This provides a backdrop to discussions around why people need to keep themselves active.

Physical Activities in Rare Conditions Collaboration

The next part of Gitas talk covered the Physical Activities in Rare Conditions Collaboration (PARCC) project. Gita began by defining that physical activity is an all-encompassing term for any physical activity which you might do - sports, household activities, gardening, general movement (etc.) whereas exercise is a sub-set of this, which is planned and structured with an aim to improve as aspect of health.  

The PARCC programme began by identifying what was important from those with HSP and other related conditions - Ataxia, Muscular Dystrophy, PSP, Huntingtons, MSA and Motor Neuron Disease. There were a lot common issues between these conditions, both in symptoms and in accessing facilities and difficulties in finding information. The first step was to identify barriers to undertaking physical activity. Common themes were around how healthcare and community facilities are organised, communication with healthcare/fitness professionals, carers and others. There was also common themes for individuals around motivation, worries and knowing what they should be doing.

A scoping review of published works showed no papers around exercise in HSP. So, there is a need to assess this. It was found that from a patient perspective the important aspects to measure for a physical activity scheme are physical wellbeing, psychological wellbeing, and being able to participate in activities. The next stage is to then develop the on-line tool for the project, which will have a range of tools, materials and stories. The project will also offer some one-to-one coaching in how to choose what to do to help with making lifestyle changes to become more active. A grant application has been made for this project, and if the grant is made then work will start!     

You can watch the whole presentation on YouTube: https://www.youtube.com/watch?v=VVEi0VZdtS0&t 

Q&A

There were a few interesting things in the Q&A.

In a discussion around muscles, Gita explained that muscles work most effectively in certain range of the joint movement, and that you are more likely to notice stiffness at the extreme ends of the joint movement.

A question was asked about Revitive power plates. Gita explained that these work in a similar way to functional electrical stimulation, and that needs an intact nerve to work well, so can work well for those with pure HSP or where their nerve degradation is only in the spine, but are less likely to work well when you have nerve damage in/near the muscles.

A few questions were asked about PARC, and Gita explained that should the grant be successful the initial work would cover the four conditions: HSP, Ataxia, Muscular Dystrophy and Inherited Neuropathies. It was also asked how PARC would be certain to get a representative spread of the HSP population. This is partly to do with the numbers of participants, but Gita also emphasised that the program will give every person their own intervention, agreed in discussion with the skilled therapists, so all plans may look different to each other.

It was asked if there might be anything useful for HSP patients in the Bridges Self Management site mentioned (https://www.bridgesselfmanagement.org.uk/) - There might be - go and look!!

 

2020 AGM - Insights from a large regional HSP cohort - Dr Channa Hewamadduma

For the 2020 AGM the technical presentations were held digitally via the Zoom platform, and each one was held on a different day. This blog post covers the second, Insights from a large regional HSP cohort, presented by Dr Channa Hewamadduma from Royal Hallamshire Hospital in Sheffield.

HSP

Channa began with a brief introduction to HSP, acknowledging that it is very variable between patients. He described that the SPG genes are numbered in the order of their discovery, and it took a long time to identify the gene for SPG3 and as a consequence this is called At-Last-In or Atlastin!

The spasticity in HSP is due to the degeneration of the motor axons in the spinal cord. He described that, as a parallel, if the diameter of the motor axon were the diameter of a football, then the length of the axon would be 7 football stadia!

Understanding the potential effects of HSP on an individual requires knowing about which type of HSP the person has. In a cohort of HSP patients some will have a family history, but many will not, they are the first person to be affected. The Sheffield cohort has 420 patients, with a clinical dataset for 371 and a gene identified in 211. Of those with a gene identified about 60% are Spast/SPG4 and around a quarter are Paraplegin/SPG7. SPG7 was thought to be rare, but may not be. SPG7 has a later onset. Cerebral palsy has been a common misdiagnosis for younger HSP patients.

Inheritance and Optic Atrophy 

More than 40% of patients have bladder involvement and around 40% have pain or spasms. More than half of people with complex HSP have optic atrophy. With optic atrophy problems are spotted when the vision is challenged.

SPG7 is one of the genes which shows the spectra of the different overlaps with other conditions and effects. 10% of those in the Sheffield ataxia clinic have SPG7. SPG7 was discovered in 1998. Sheffield has 55 SPG7 patients, and there is a spread between those with HSP, those with ataxia and those with both. The mean age of onset is 42 years.

Further detail was given on optic atrophy. If people are less able to move their eyes they may have been told they have had a stroke rather than have HSP. Optic atrophy in HSP may mean that people are not able to move their eyes equally in every direction. They are hoping to be able to use this as a biomarker for HSP. 

An analysis of published data shows that the age of onset of HSP varies with where the mutation occurs within the gene. If the patient has inherited the same mutation from both parents then their onset may be later than if the patient has inherited different mutations from each parent. If the mutation is sufficient to prevent the protein from working (loss of funciton), the patient would have greater spasticity.

The Sheffield Clinic 

Channa described the in-clinic process for patients, getting an assessment of spasticity, coordination, visual, mood, gait and more. They have a range of interventions available. They are planning to identify the potential for a gait biomarker, to look at the natural progression of HSP and look at the differences between types of HSP.

They have been experimenting with a single sensor gait monitoring, worn on the lower back, which can be used to see how the gait has been affected. Some data was presented looking at a 10m walk test, where a person stands, walks 10m, turns, returns and then sits. Those with SPG4 tend to have more problems standing up, whereas those with SPG7 have more problems sitting down. The gait analysis can also spot effects in mildly affected, which gives them a "trial ready" group of patients.

Future Plans

They are hoping to be able to analyse differences in neuro-imaging to help predict how HSP could progress in an individual.

They are also working on a drug screening programme, looking at the effects of different drugs on cells, from SPG7 , using drugs identified through re-purposing programmes. A high content imaging screen is used to differentiate between cells and controls.

You can watch the whole presentation on YouTube: https://www.youtube.com/watch?v=s3qZqLnNpBY 

Q&A

In the Q&A there were a few interesting points. 

There is no difference between the terms paraplegia and paraperisis.

There are differences in the mutations in specific types of HSP around the world.

Some people get benefits from co-enzyme Q10, some from CBD oils and some from gluten free diets. A study is planned around the gluten free diet.

For each type of HSP there can be many different mutations. Some of the mutations are more common than others, and there is some variation in the mutation type/location in particular parts of the world.