HSPers are entitled to the Medicare Rebate for 5 Allied Health Services per calendar year under the Chronic Conditions Management Scheme which needs to be instigated by your GP.
This can cover physiotherapy, podiatry, counselling, exercise physiology, dietician, occupational therapy and other services. It is up to your GP to decide which services you can avail yourself of under the plan.
Full details of the plan and entitlements are available on the Federal Department of Health and Ageing website as follows:
Apparently GPs rarely mention the scheme to their patients, and it seems that some GPs are less willing than others to participate because of the work involved for them, however they do get paid for participating. HSP clearly fits within the guidelines for the scheme, so raise the issue with your GP and ask for what you are entitled to.
You will need to pay directly for services rendered and then submit your receipts to Medicare for reimbursement.
A study to determine adequate dose levels of intrathecal baclofen to treat spasticity has found that a significantly smaller dose is needed for HSP than for other diseases.
Baclofen, a gamma-aminobutyric acid receptorB agonist, is used to reduce symptoms of spasticity (hyperreflexia, increases in muscle tone, involuntary muscle activity), but the adequate baclofen dose in different diseases is unclear.
The aim of the study was to evaluate how dosage level improves the symptoms of spasticity. 25 weeks of observational longitudinal follow up study assessed 16 patients who received intrathecal baclofen given by a programmable pump.
Clinical efficacy was assessed by the Ashworth scale related with the dose of baclofen. Compared with pretreatment values, there was an improvement in clinical efficacy, but the baclofen dose needed for hereditary spastic paraplegia (HSP) was significantly smaller than that in other diseases.
The result shows the importance of knowledge of the adequate baclofen dose in each disease, in that baclofen causes some clinically significant adverse reactions.
SOURCE: No Shinkei Geka. 2011 Apr;39(4):345-350.
Adequate Dose of Intrathecal Baclofen Therapy for Spasticity.
[Article in Japanese]
Wajima D, Hirabayashi H, Nishimura F, Motoyama Y, Nakase H.
Department of Neurosurgery, University of Nara Medical Graduate School.
Catching the toes or tripping while walking are two of the earliest and most noticeable signs of HSP for many with the condition. There is a class of devices called Ankle Foot Orthoses – AFOs for short — that can help some HSPers walk better.
They won’t be suited to everyone for reasons relating to HSP progression or perhaps bio-mechanical factors. Talk with your neurologist and/or physiotherapist about the potential for an AFO to help in your particular case. Podiatrists and orthotists are allied health professionals who also have a role to play regarding AFOs.
A new AFO on the market from Allard has created considerable interest in the HSP community in the USA. Here are some of their comments:
“I call them my bionic legs. When I am wearing them, I feel so much more balanced, and standing taller”.
“…while this is the first AFO I have had and it is the Blue Rocker from Allard. I have been very happy with it even though I am not happy with the fact that I have to wear one!”
“Those are made by the same company as the toe-offs, Allard. My neurologist & therapist in the same office suggested I get them … My overall quality of life has improved wearing one!”
“They are made with carbon. Instead of cupping around the heel, the plate you stand on goes up on the outside or your ankle. It has what kinda looks like a soccer shin-protector that straps around your leg, so it’s attached on the front of you leg, rather than the rear. There is a nice padded area there, so there isn’t any rubbing on the skin.”
The AFOs come in different sizes, including a toddler AFO, and models for different levels of stability. The Australian distributors for the product are:
Orthopaedic Appliances Pty Ltd
55 Tinning St
Brunswick Victoria 3065
Ph: 03 9383 1622
E-mail: oapl@alphallink.com.au
Checking genetic compatibility easily and cheaply may be feasible in the not too distant future.
Melbourne-based Professor Richard Cotton, heads up the international Human Variome Project which aims to create a database of every mutation of every gene that causes disease.
Professor Cotton, a friend of HSP Research Foundation co-founder Robin Bligh, said: “each disease is so rare that they’re a tiny voice, but as a group they cause an enormous amount of damage in the community”. About 60 per cent of people in their lifetime will either suffer a disease caused by a genetic mutation or have a loved one afflicted.
It can be difficult or impossible for an HSPer to manage a cane, walker, wheel chair or scooter AND an umbrella. Here are some different products that can give you hands-free umbrella coverage to protect from rain or provide shade on a sunny day.
Honda, a company best known for making cars, has extended its research into robotics to come up with futuristic personal mobility technology. This from their website: “most people think of Honda as an automobile company. But our main focus is and always has been human mobility. And innovation is our engine”.
They have come up with a compact, mechanised, hands-free personal transporter that moves in response to changes in the rider’s centre of gravity (balance).
Check out their 3 1/2 minute video presentation showing this device in use.
They have also just released 2 other devices that attach to the body:
Stride Management Assist – helps with an awkward gait by lengthening stride and regulating walking pace. Click ‘Learn More’ at the web site link and watch the 2 1/2 minute video.
Bodyweight Support Assist – for activities requiring extended standing or repetitive lower body tasks, this helps by supporting a portion of a person’s body weight and reducing the load on muscles and joints. Click ‘Learn More’ at the web site link and watch the 2 1/2 minute video.
While these technologies may be more in the concept stage, you can get an idea of how they may be able to help HSPers get around.
Because the medical literature on hereditary spastic paraplegia (HSP) is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of HSP. The differential diagnosis of progressive spastic paraplegia strongly depends on the age at onset, as well as the accompanying clinical features, possible abnormalities on MRI, and family history. In order to develop a rational diagnostic strategy for pediatric HSP cases, we performed a literature search focusing on presenting signs and symptoms, age at onset, and genotype. We present a case of a young boy with a REEP1 (SPG31) mutation.
A 4-year-old boy presented with progressive walking difficulties from the time he started walking at the age of 12 to 13 months. His family history was significant for minimal gait abnormalities with onset after age 35, occurring in the patient’s mother, maternal grandfather, and maternal aunt; none of them had ever sought medical attention. Neurologic examination revealed a mildly spastic gait and marked lower limb hyperreflexia with bilateral Babinski signs present. Vibration perception was reduced at the ankles. Neurologic examination of the patient’s mother and maternal aunt revealed subtle gait abnormalities with bilateral Babinski signs present.
MRI of the brain and spinal cord and general metabolic screening revealed no abnormalities. Diagnostic genetic testing in both the patient and his mother revealed a pathogenic mutation (c.417 + 1 G>T) in REEP1 (SPG31) which causes a pure HSP. Mutations in ATL1 (SPG3A) and SPAST (SPG4) had previously been excluded.
Discussion
HSP is a genetically and clinically heterogeneous group of disorders in which the main clinical feature is progressive lower limb spasticity secondary to pyramidal tract dysfunction. HSP is classified as pure if neurologic signs are limited to the lower limbs (although urinary urgency and mild impairment of vibration perception in the distal lower extremities may occur). In contrast, complicated forms of HSP display additional neurologic and MRI abnormalities such as ataxia, more significant peripheral neuropathy, cognitive impairment, or a thin corpus callosum. HSP may be inherited as an autosomal dominant, autosomal recessive, or X-linked disease. Over 40 loci and nearly 20 genes have already been identified. Autosomal dominant transmission is observed in 70% to 80% of all cases and typically results in pure HSP.
Spastic paraplegia is a common problem in the daily practice of pediatric neurologists, generally caused by acquired brain disorders such as perinatal asphyxia or infections early in life resulting in cerebral palsy. In addition, there is a long list of more rare disorders to consider when confronted with spastic paraplegia including structural, infectious, demyelinating, and metabolic disorders. Only in a small minority of cases does HSP underlie the spastic syndrome. Many patients with childhood-onset HSP are mistakenly diagnosed with cerebral palsy. In children with spastic paraplegia in whom no acquired cause can be identified, HSP should be considered. A positive family history aids with the diagnosis. Our case illustrates the importance of neurologic examination of family members who may be mildly affected.
Since the medical literature on HSP is dominated by adult case series, it is difficult to decide how the genetic evaluation should be structured when a child is suspected to have HSP. In order to develop a rational diagnostic strategy for HSP in children, we performed a literature search focusing on presenting signs and symptoms, age at symptom onset, and genotype. We also share some of our personal experiences from a clinic-genetic database, as our institution has served as a tertiary referral center for Dutch HSP patients for over 2 decades.
Characteristics
In the medical literature, symptom onset before age 18 has been documented in many HSP cases, particularly in the complicated forms, which show a clear overlap with many metabolic disorders and leukodystrophies. In a series of 23 children with HSP, 15 of 23 (65%) were reported to have a complicated (mostly recessively inherited) HSP, compared to 8 of 23 (35%) with a pure HSP.
In our HSP database, an early age at symptom onset (prior to age 18) was found in 72 of 175 (41%) patients, with a heterogeneous genetic background; 47 of 72 (65%) autosomal dominant cases; 12 of 72 (17%) autosomal recessive cases; and 13 of 72 (18%) sporadic cases. Gait difficulties were the presenting symptom in 81%, with a mean age of 8 years. A complicated phenotype was present in 25%. Of these 72 early-onset HSP patients, at least 20 (28%) had presented in childhood to a pediatrician or pediatric neurologist.
Prior reviews have provided in-depth descriptions and overviews of all known HSP forms. In this article, we focus on the most prevalent (>5 families described) forms of HSP with a possible childhood onset.
SOURCE: Neurology. November 9, 2010 vol. 75 no. 19 e75-e79
Child Neurology: Hereditary spastic paraplegia in children
S.T. de Bot, MD, B.P.C. van de Warrenburg, MD, PhD, H.P.H. Kremer, MD, PhD and M.A.A.P. Willemsen, MD, PhD.
Departments of Neurology (S.T.d.B., B.P.C.v.d.W.) and Paediatric Neurology (M.A.A.P.W.), Donders Centre for Brain, Cognition, and Behaviour, Radboud University Nijmegan Medical Centre, Nijmegen; and Department of Neurology (H.P.H.K.), University Medical Centre Groningen, Groningen, the Netherlands.
This relatively simple Ankle-foot Orthosis (AFO) aims to prevent foot drop experienced by many HSPers, that leads to the toes and feet dragging or catching.
A Texas company is producing the AFO, which has a strap or hooks to go around the ball of the foot, and connecting to an ankle brace by adjustable tension springs to accommodate for the different amounts of assistance required from person to person in getting the toes up.
If you are interested, talk with your physiotherapist or occupational therapist or podiatrist to see if it might be right for you.
Currently we do not know if this device is available in Australia, although the US company does have an order form on their website.
Disclaimer: We have no information on the effectiveness of this device and are not recommending it. We bring it to you here solely for information purposes. A good idea with assistive technologies is “Try before you Buy”.
Certain indicators in gait pattern may help distinguish HSP from cerebral palsy especially with genetic testing not being comprehensive.
This has important implications for management and possible surgical treatment for functional improvement.
Hereditary spastic paraplegia (HSP) designates a group of genetic disorders typically leading to spasticity in the lower limbs and consequently to gait disorders. Although the symptoms are similar to those of cerebral palsy (CP), the correct diagnosis is important for treatment recommendations as one condition is progressive in nature whereas the other is not. Due to the heterogeneity of HSP, genetic testing is complex and in some genetic forms still not possible. The aim of this study was, therefore, to investigate if instrumented 3D-gait analysis could help distinguish between these two conditions.
The gait pattern of 29 patients with HSP was compared with that of 29 patients with CP who were matched in age, sex, and the extent of gait disturbance and also to 29 typically developing subjects for reference. More than 3000 gait parameters were evaluated for their relevance to classify patients into diagnostic groups. Cluster analysis revealed that these gait features may classify only subgroups of symptoms as the gait pattern is very heterogeneous within each diagnosis group. However, prolonged hip extension, knee extension, and ankle plantar flexion were identified as indicators for HSP. In addition, large trunk tilt velocities appear unique in some cases of HSP. These indicators in gait pattern may contribute in establishing the diagnosis of HSP, which is important in predicting outcome when planning surgical treatment for functional improvements in these patients.
SOURCE: Gait Posture. 2011 Feb 15.
Gait analysis may help to distinguish hereditary spastic paraplegia from cerebral palsy.
at the National Centre for Adult Stem Cell Research
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This year’s HSP Research Foundation Workshop was held at the National Centre for Adult Stem Cell Research (NCASCR) within the Eskitis Institute at Griffith University in Brisbane on Sunday, 7 November 2010. 16 people from as far as the Sunshine and Gold Coasts enjoyed meeting other HSPers and learning from the four excellent sessions on offer. It was a definite plus for the workshop to be held where the stem cell research on HSP is being done, giving people a tangible experience of where almost all our funding goes.
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HSPRF President Frank McKeown attended the Workshop, commenting that it was a very encouraging turnout and thanked all who helped make it happen, especially Ken Price the convener, and his wife Helen for a well organised Workshop and a smoothly run day overall. Frank also offered sincere thanks to Professor Alan Mackay-Sim and his colleagues for their generosity in making the Centre available for the workshop.
Each session generated a lot of interest and interaction that was continued in discussions over lunch as well as some socialising. The Workshop is a first in Queensland and lays a foundation for a growing network in southeast Queensland and northern New South Wales.
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Stem Cell Research Progress – Greger Abrahamsen, Researcher NCASCR
Ken Price, workshop convener and HSPRF committee member, welcomed everyone and introduced Dr. Greger Abrahamsen, the researcher who works on HSP, to talk about progress with the stem cell research.
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Greger explaining the Analyser
Greger took the group on a tour of the research laboratories, explaining the aims, methods and results achieved at different stages of the work. As well, he talked about the state-of-the-art equipment and technology employed.
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Tour of Stem Cell facility
Greger talked about growing the stem cells – both normal ones and those from HSPers, developing gene expression profiles for each and imaging the significant differences found between the normal and the HSP stem cells. The sophisticated imaging equipment also carried out unique analyses to quantify the differences seen.
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Stem Cell Laboratory
Greger put it into plain English for everyone, using the analogy of fuelling stations (peroxisomes) and a railroad network (microtubules) to describe energy transport mechanisms and functions going on within the cells. It is these mechanisms and functions that are affected in HSP cells that will become the target for potential drugs in the upcoming research project. The aim will be to identify compounds that help the cell compensate or return to normal function. Read more about the HSP stem cell research going on at the NCASCR on our website.
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Participants had a steady flow of questions throughout and clearly appreciated the hands-on approach of seeing the research in action.
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Achieving and Maintaining Good Mental Health – Jacinta Lipp, Team Leader, Consultation Liaison Psychiatry Unit, Princess Alexandra Hospital; co-presented by Trish Blair
Jacinta Lipp presenting
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Jacinta raised and addressed questions for people to think about regarding this important and relevant, topic for HSPers. What constitutes good mental health? What can affect it? What can you do to gain and maintain it? What is depression? What should you do if you’re feeling down? There are a number of factors which impact mental health. A major issue is maintaining a positive outlook on life, backed up by things like exercise, good nutrition, social connections and hobbies. Download the PowerPoint presentation.
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Trish Blair co-presented the session. She spoke about her lifelong journey with depression, that like HSP, ran in her family – a genetic cause, and of the importance of frame of mind in having a positive outlook on life. Trish outlined 5 steps to recover from depression and stay on top of things.
Beyond Blue 'show' bags
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During the Q&A, Jacinta addressed the common issue of frustration. We can be frustrated by not being able to do the things we used to do – we need to find ways to cope. This will vary from person to person – talking about it to others, writing it down to get it off our minds, doing things to keep us occupied such as exercise – the message was clear that it needs to be something that you enjoy whatever it might be.
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Jacinta closed by emphasising the importance of talking with someone rather than going it alone when things get tough.
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Managing & Maintaining Mobility with HSP – Meredith Wynter, Senior Physiotherapist in the Cerebral Palsy Health Service at Royal Children’s Hospital
Meredith spoke about the potential of Botox for alleviating spasticity in HSP. She gave a detailed account of how Botox is injected into the calf muscle normally in 4 locations. She stressed the importance of being assessed by a doctor familiar with the use of Botox in treating spasticity, saying that it was not suited for everyone, that good results are obtained about 50% of the time, and that the beneficial effects normally last a few months. The challenge is to balance the reduction in spasticity with added weakness caused by the Botox.
Physiotherapist Meredith Wynter
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Meredith said there was new research that showed strength training in the gym is beneficial for spasticity. There are resources available for the modification of gym equipment suitable for use by HSPers. (We will bring you this information when available in a future website edition)
Any program of exercise must include and strike a good balance between strengthening AND stretching. The main stretches for tightness and spasticity with HSP are the calf stretch and the hamstring stretch, both of which are necessary on a regular basis to avoid muscle shortening over time. These exercises should be done with the knee locked so as to isolate the muscle in question to make sure it is getting a good stretch.
A good guide to stretching is that you need to feel it, but you should not stretch so far or so hard that it is painful. Just hold the stretch at the point at which you can feel it pulling, then focus on breathing and relaxing at that point.
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Here is a basic 6 part stretching routine:
Calf stretch
Hamstring stretch
Second hamstring stretch sitting against a wall
“A- Frame” stretch (similar to the downward dog pose in yoga)
Hip flexors—lunge forward
Hip adductors
In closing, Meredith said that because everyone is different in their symptoms, level of spasticity, muscle weakness and related mobility issues, it is highly recommended to initially be assessed, treated and have a program for ongoing stretching and strengthening done by a physiotherapist, preferably one experienced in neurological conditions, such as a neurological physiotherapist. For some people the best results will be obtained with a combination of Botox and physio. Download the PowerPoint presentation.
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Making Life Easier for HSPers – Amber Newell, Occupational Therapist, LifeTec Qld, Assistive Technologies. www.lifetec.org.au
Amber set up a display with a huge range of ingenious assistive technologies to make everyday activities and tasks easier to accomplish – ranging from putting on your socks to getting in and out of the car.
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Amber demonstrating assistive technologies
A number of people already had car seats that allowed for the twisting into the car once seated. Cords to lift one leg or two could be used to assist getting into the car as well or into bed. Amber had the latest in wheelie walkers with independent wheels, adjustable arms and other features which make this device more easily to manage.
Ken & Amber field a question
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A big hit with two of the attendees was a simple device to assist with pulling on socks – probably a bigger hit with one of the partners who has to undertake this task.
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Amber talked about and demonstrated a huge variety of helpful aids that you can learn more about on their website www.lifetec.org.au.
