Living with HSP – Management & Treatment Background

Steady Advances in Diagnosis, Management & Treatment

Diagnosis

Gene testing as part of diagnosis of HSP is becoming more widely available around the world, covers more genes and mutations than previously, and is reducing in cost over time. This will help enormously with positive diagnosis, reduce mis-diagnosis of HSP, reduce the anxiety that goes with uncertainty, help with family planning and reduce the incidence of inter-generational transmission. Careful exclusion of alternate and co-existing disorders is an important element in HSP diagnosis. Gene testing is not something to be undertaken without a lot of thought however and with the information that a genetic counsellor can provide.

Diagnosing HSP in children can involve special considerations regarding genetic testing and also in making an accurate diagnosis based on clinical presentation. An article from the Netherlands on HSP in Children comprehensively covers diagnosis, testing, a case study and descriptions of HSP caused by eight different gene mutations.

Management & Treatment

Treatment and Management are presently focused mainly on reducing and controlling the symptoms of HSP.  A whole suite of disciplines – physiotherapists, podiatrists, orthotists, occupational therapists, exercise physiologists – as well as neurologists and family doctors are working on reducing muscle spasticity, treating urinary urgency, treating pain, and maintaining or improving strength, flexibility and mobility of HSPers.

Neurological Physiotherapy

One of the best investments an HSPer can make is to go and see a neurological physiotherapist to help achieve the following:
• Promote independence – enable an individual to do as much for themselves as possible. Nobody wants to have therapy forever (as much as you may like your Physiotherapist!)So we aim to give you the ‘tools’ to be as independent in daily life as possible.
• Minimise the impairments – HSP can result in localised problems that can limit general function, i.e. tight or weak muscles, spasticity and poor co-ordination. Physiotherapy aims to work on these specific issues to improve your general function.
• Manage symptoms – Physiotherapy can help manage the symptoms you experience such as pain, stiffness, poor balance and walking difficulties.
• Prevent/ limit deterioration – By addressing the above it maybe that we can limit or prevent deterioration of the difficulties you experience.
• Prevent/ limit development of secondary complications – Invariably people with HSP have to move in different ways to achieve every day activities. This can lead to other problems developing such as pain or arthritic changes which we aim to limit wherever possible.

Neurological physiotherapists work in the following areas:

  • Spasticity Management – managing the stiffness you experience is probably one of the biggest areas we can help with in HSP. There are a number of ways we can help. Sometimes this may also mean we join forces with the doctors or other health professional to give a combined approach. Below are a few of the more common Physiotherapy approaches:
  • Stretches – by preventing a muscle getting short or tight this can reduced the spasms and spasticitiy within the muscle. You may be given stretches to do by yourself or with some else to help you.
    Splinting – By using splints we can stretch the muscle for longer periods of time. This can lead to better results when compared to stretches you do by yourself, especially for very tight or stiff muscles.
  • Muscle Stimulation – We can deliver a small electric currents to the muscle (or opposite muscle group) to help switch the muscle on more appropriately or help to switch it off. By asking the muscle to work as it naturally should it can help reduce the spasms.
  • Functional Exercises – asking the muscles to do what they are designed to in the correct movement patterns is helpful at reducing and managing spasticity.
  • Posture Management – Posture is key!! By putting the right muscle in the right place to do the right job is the essence of posture management and consequently spasticity management.
  • Medication – We work closely with the doctors to monitor how effective the medications are. You will probably see a physiotherapist more often than the doctor so we can be helpful at suggesting new medications or changes to your current medication to help improve your function.
  • Exercises – As mentioned above, Exercises form the basis of Physiotherapy.  You will most likely be asked to do them as part of a home programme. Like any home work, it is down to you to do it. Unfortunately no one else can do it for you!!  I would suggest that any exercise programme should concentrate on strengthening muscles and working on maximising your balance. This is because these are the area’s most likely to help you achieve greater independence in your daily to day activities.
  • Gait Training – (a fancy way of saying ‘working on your walking’).  A combination of spasticity management and exercises will invariably improve your walking. However, some people may need a little more help. A specially trained physiotherapist may look at a treatment approach called Functional Electrical Stimulation (FES). FES uses a small electrical current to stimulate the muscles of the foot and ankle to help you step forwards (other leg muscles can also be stimulated). The device consists of electrodes placed on the skin below the knee and it is switched on by your walking pattern. It can make walking significantly easier and less effortful.
  • Functional Re-education – Physiotherapy can help you maintain or improve your ability to do day to day activities. We will often watch you do the tasks you find most challenging and then teach you an easier way or even give hints and tips on how you could do it differently. Remember we want you to do as much for yourself as possible!
  • Pain Management –Whether you experience pain as a direct result of your HSP or because of the altered ways of moving, physiotherapy can help manage the pain. We may use treatment approaches mentioned above, including stretches, massage, facilitation, movement re-education or the use of electrotherapy devices called a TENS machine. We may also work with the doctors to make sure you are on a medication that is helping.

The Australian Physiotherapy Association website has a ‘Find a Physio’ tool.  The search function allows you to sort by Location and Clinical Area –  choose ‘Neurology’, as a physiotherapist with a neurology interest is likely to be a good resource in developing a program for an HSPer.

Fitness & Mobility

While much is still unknown, the value and benefits of fitness – muscular strength, cardio-vascular fitness and flexibility are reported by many HSPers.  Whether it is a workout at the gym, cycling, swimming or floor-based exercises – there is something of benefit that every HSPer can do.  As the type and severity of symptoms varies in important ways from one HSPer to another, it is highly recommended that HSPers seek professional help such as a neurophysiotherapist for assessment and the design of a tailor-made fitness program. Aids such as ankle-foot orthotics, splints, canes, walkers or wheelchairs are a boon to many in maximising their mobility.

Surgery

Some HSPers have had surgery to relocate the tendons of the lower leg to facilitate walking.  Good candidates for this surgery report significant gait improvements and there is evidence to suggest that foot deformity associated with HSP as it progresses is stalled, if not avoided.

Mental Health

The psychological aspects of living with a disability should not be ignored.   Support from friends and loved ones is important to many HSPers in having a positive outlook on life, as is exercise and fitness.  However it is not uncommon for HSPers to feel down, even depressed at times.  Depression can and should be treated.  Talk to your doctor or mental health professional. Here is a list of organisations who can help.

Helping Yourself

There is something positive that all HSPers can do for themselves every day.  While there may not be a cure for HSP yet, there is much benefit to be gained from individuals investing in developing their own management and treatment programs, using a range of resources and the support of a wide range of professionals.

Go to the Australian Physiotherapy Association website to use the ‘Find a Physio’ tool.  The search function allows you to sort by Location and Clinical Area –  choose ‘Neurology’, as a physiotherapist with a neurology interest is likely to be a good resource in developing a program for an HSPer. You may need to search surrounding suburbs or larger centres to find a suitable physio.

Archive of Management & Treatment News

Each quarter’s pick of articles will be available in the Archive.

Check out Living with HSP – Management and Treatment News on the home page and the associated Archive for more information to help HSPers maximise their functionality and mobility in day-to-day living. Articles from each quarter’s Living with HSP – Management and Treatment News will be available in the Archive.

Some material in the archive has been sourced from the National Center for Biotechnology Information in the USA through PubMed – a service of the National Library of Medicine and the National Institutes of Health in the USA.  We are most grateful for this excellent global resource and its value to HSPers everywhere.

These articles are for information and education purposes only. Medical matters should be discussed with your doctor and specialist and advice taken only from them.