There is a misconception that, because there are no approved drug treatments for FSHD, there is nothing you can do for your health.
It is true that there is currently no treatment that has been shown to stop the progression or reverse the damage caused by FSHD. But there are many therapies available that other people with FSHD have found beneficial for their wellbeing and may improve your quality of life.
It’s important to stress that many of the therapies listed below have little empirical evidence supporting their use in FSHD – meaning that studies have not been carried out on these therapies. Because FSHD is so variable, it is difficult to predict what treatments may work for you. An individualised plan, developed in collaboration with a health professional you trust, will help you decide on the best treatments.
After you’ve been diagnosed, a wide range of medical specialists and allied health professionals could be involved in your care, at different stages. Here are some of the health professionals you might see:
Neurologist
Genetic Counsellor
Psychologist
Physiotherapist
Occupational Therapist
Exercise Physiologist
Speech Therapist
Dietician
Opthamologist
Cardiologist
Pain Specialist
Respiratory Specialist
Because FSHD is a relatively rare disease, it’s possible the medical professionals you meet have not previously treated a patient with the disease. So it can be useful to prepare for your visit and provide some information on the condition and the care you will require.
The FSHD Global Research Foundation has prepared some health management guides that are free to download and print:
Pain can have far reaching consequences on your emotions and mental health and can severely affect your daily life. But pain is not an inevitable consequence of FSHD; you do not need to put up with being in pain simply because you have a chronic condition. There are specialists and pain management clinics available to help you identify what is causing you pain and the best way to manage it.
Pain is highly subjective, so pain relief that works for one person may not have any effect for another. Non-pharmacological methods, such as cognitive behavioural therapy and mindfulness, can be as effective as medicines for some people. Speak to your healthcare team to explore the possibilities.
There are many different types of physiotherapy but they won’t all work for everyone. It might take some ‘trial and error’ to find a practitioner and a technique that works for you.
It’s important that you find a practitioner who has some experience in neuromuscular conditions or degenerative conditions. This is because much physiotherapy is focused on recovery. With FSHD, as with many chronic degenerative conditions, recovery of muscle is not a realistic goal. Instead the aim of therapy is to maintain your condition, improve or maintain balance, and support your fitness.
It will be helpful to discuss your goals and your physical limitations with your physiotherapist before you start planning your physiotherapy.
Finding a practitioner who is suitably trained and experienced may be challenging. If you are currently seeing a neurologist, ask for some recommendations for a physiotherapist or for a referral. You can also ask your GP, nurse, or other care worker if they know anyone in your area who is trained to work with people with neuromuscular diseases.
We also have a forum where people with FSHD can share details of health professionals they recommend. You can also post in the forum asking for suggestions of who to see, or add your own.
There are currently no trials looking at the benefits of hydrotherapy for FSHD. However, hydrotherapy does assist mobility and can be an efficient means of exercising. Many physiotherapists will offer hydrotherapy sessions.
Massage may be effective for managing pain and help with stretched and strained muscles. Speak to your health professional about massage, as they may be able to refer you to a good therapist in your area or direct you to therapists who may be covered by your health insurance.
There have been a few studies into exercise for FSHD. However, these studies were short with only a small number of participants, so it is difficult to extrapolate the results to a recommendation for treatment. However, a recent review concluded that the evidence overall suggests exercise is not harmful for people with FSHD. Exercise does have many benefits, so the lack of evidence should not put you off. But before embarking on any exercise program, please consult with your healthcare team.
There are two main types of exercise: aerobic exercise and resistance training. Aerobic exercises include activities like running, cycling and swimming. They temporarily elevate heart rate and breathing rate. Resistance training includes activities such as lifting weights, which build strength in the muscles.
Aerobic exercise has not been linked to any negative effects for people with FSHD. Aerobic exercise like swimming, using a stationary bike, or walking will improve your overall fitness with a low risk of injury. A review of evidence published in 2019 showed that aerobic exercise for people with FSHD could improve aerobic capacity, a measure of fitness.
When it comes to resistance training, there are a couple of concerns that may leave people at risk of injury. The first is the differences in strength in different muscle groups. For example, let’s say your bicep muscle in your arm does not have any significant weakness, but the muscles surrounding the bicep do. Then resistance training for your arms may lead to overuse or stretch injury in the weaker muscles.
The second concern is fatigue. For people with significant weakness, simply performing activities of daily living may be exercise enough. Further stressing the muscles with weight training may lead to injuries.
If you would like to engage in a resistance training program, it is best to do it with direction and support from a physiotherapist with experience in neuromuscular disease and an exercise physiologist also with neuromuscular disease experience.
Scientists around the world are carrying out research studies on exercise for people with FSHD, so hopefully in the future we will have more concrete evidence.
There are a number of options for surgical management of FSHD that are mainly concerned with fusing bones. The purpose of these surgical methods is to help treat the instability created when muscles weaken.
One of the most common operations is scapular fixation. The scapula is also called the shoulder blade, and sits on the upper back. Often in FSHD, the muscles that hold the scapula in place and attached to the arm become progressively weaker, leading to ‘winging’ and eventually an inability to lift arms.
During the scapular fixation procedure, the scapula is permanently attached to the rib bones that lie underneath it. This can improve a person’s ability to move their shoulder.
There are other surgical techniques that may provide some help. However, surgery does come with risks and does not always result in significant improvement. It’s important to speak to your healthcare team before deciding on a surgical treatment strategy.
Other muscular dystrophies are associated with breathing difficulties as the muscles that control breathing become progressively weaker. This is not a common complication of FSHD. However, regular monitoring of breathing function is recommended, especially as you may not realise you have issues with breathing.
It is relatively simple to diagnose and treat nighttime breathing problems. Some people may respond well to position therapy, to help you sleep in a position that limits any obstruction to breathing.
Where supplemental oxygen is recommended, it is important to monitor carbon dioxide retention, and often CPAP/BiPAP (a non-invasive ventilator) is recommended.
The progression of FSHD varies so widely between people that it is difficult to predict whether you will need to use a wheelchair or not. Statistics from the USA suggest that about one in five people with FSHD do eventually become dependent on a wheelchair to get around.
There are a number of aids available to help you maintain mobility before, or in combination with, using a wheelchair. These include ankle-foot orthosis for foot drop, walking sticks, wheeled walkers and crutches.
While it is true that many people with FSHD do use a wheelchair for mobility, the idea that they are ‘confined’ to it is misleading. Some people may have lost the ability to walk and therefore a wheelchair allows them to get from A to B. Others may use a chair only for long distances to prevent fatigue. Some people with significant foot drop use a wheelchair because it allows them to get around safely, while preventing falls and fractures that might cause further mobility problems.
Unfortunately, because FSHD is a genetic condition that damages your muscles, you can’t build back the muscle that is lost. There are a range of nutritional products available that claim to improve muscle health but there is very little scientific evidence that they work for FSHD. However, they may assist in maintaining healthy muscles that are not affected by FSHD. You should discuss any potential benefits with your neurologist before buying any products. Maintaining a healthy diet is good advice for anyone to follow.
There are currently no treatments and no cure for FSHD. But with clinical trials now underway globally and over 20 pharmaceutical companies developing potential therapies, we are optimistic that there will soon be options for people living with FSHD to slow or stop the progression of the disease.
There are a number of places where you can find up-to-date information on research into FSHD. FSHD Global Research Foundation updates our community on advances in research and upcoming clinical trials. If you would like to be kept informed, email admin@fshdglobal.org to be added to our mailing list.
You can also find information about research from:
You may also want to search for research papers on PubMed. PubMed is the global repository for millions of medical research papers. If you come across a study that you would like summarised or explained, please email admin@fshdglobal.org. We are here to help you understand this disease and advocate for yourself.
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