What Is FSHD?
Facioscapulohumeral muscular dystrophy or FSHD is a highly complex, progressive muscle wasting disease. It does not discriminate, affecting the lives of men, women and children from all walks of life. The Global footprint of this condition is enormous. Worldwide, FSHD affects the lives of an estimated 1 million people, a figure that does not take into account the effect FSHD has on the friends and family of the person affected.
Despite being considered one of the most common forms of muscular dystrophy in adults and children there are no treatments and no cure.
FSHD is commonly associated with progressive weakening of facial, shoulder and upper arm muscles. However, this explanation does little justice to a disease that can rob people of their ability to walk, talk, smile or even eat. The progression often comes in bursts with sudden deterioration followed by periods of no change.
The loss of skeletal muscle has a huge impact on daily life making even simple tasks complicated. Living with FSHD means living with pain, fatigue and the social isolation that comes from being reliant on mobility aids. The future for someone with FSHD is uncertain because there is so much variability in how FSHD manifests in people. However, the past 10 years has seen a massive improvement in our understanding of FSHD. The Foundation’s investment in medical research has lead to great leaps in knowledge and we are getting closer and closer to a time when our understanding of this incredibly complex condition will mean that people with a diagnosis of FSHD will know what their future looks like.
Key Facts & FAQ’s
FSHD or Facioscapulohumeral Dystrophy is named for those areas where muscle weakness is usually noticeable in patients. Facio (face), Scapula (back/shoulder), Humeral (upper arm). However, many people experience weakness throughout the skeletal muscle system.
At the moment there are no treatments and no cure for FSHD.
FSHD receives no government funding for research in Australia.
FSHD Global Research Foundation is the largest funder of medical research into FSHD outside the USA government. For more information on FSHD Global Research Foundation.
Signs & Symptoms
Facioscapulohumeral dystrophy (FSHD) is a type of neuromuscular condition called a muscular dystrophy. There are more than 30 muscular dystrophies currently known and FSHD is thought to be the most common affecting both adults and children.
The key feature of all muscular dystrophies is progressive skeletal muscle weakness. FSHD is named for the pattern of muscle weakness that is typical for this condition. That is weakness in the facial (facio), shoulder and back (scapula), and upper arm (humeral) muscles. However, while this is the typical pattern, most people with FSHD have weakness in other areas as well with the hips, trunk and lower limb commonly affected.
Infantile FSHD is the name given to FSHD that manifests early in life when weakness is evident in childhood or infancy. This is also called early onset FSHD or paediatric FSHD. Infantile FSHD is a much rarer condition than the adult onset FSHD.
Infantile FSHD tends to be more severe compared to the adult condition. Many children with the condition experience a faster and more severe decline in muscle function. Hearing and sight complications are also more prevalent.
While much is known about the adult form of FSHD the infantile form is less well known. FSHD Global supports a multinational trial into infantile FSHD being conducted through the cooperative international neuromuscular research group. This trial is characterising infantile FSHD and following a group of children through time in order to better understand how and why the infant form of FHSD differs from the adult form. The trial is also identifying potential targets for drug discovery. For more information on the results of this trial please see our page dedicated to this study.
At the moment we don’t know why infantile FSHD is more severe than adult onset. It appears that many children with FSHD have larger deletions of D4Z4 repeats which is associated with more severe symptoms in adults. Emerging research also suggests that there may be multiple mutations working in synergy making the symptoms and progression more severe.
FSHD Global has also launched the Monica Ellis Children’s Medical Research grant. The purpose of this grant is to fund basic, therapeutic and diagnostic research into infantile FSHD. It is our hope that through this grant and the research that is currently underway around the world our understanding of this severe and debilitating form of FSHD will improve exponentially. This will pave the way for new treatments and even a cure.
FSHD Global will continue to update this page as new discoveries are made.
Finding the answer: diagnostics communication and barriers
Our community reports that interactions with health professionals can be frustrating. Here we outline the recommended methods for confirming whether someone has FSHD and provide some guidance on the steps to getting to a diagnosis. We also explore some of the common misconceptions that people with FSHD experience.
Health professionals, particularly in primary care, are dealing with high patient loads with very little time to devote to learning about conditions that are rare. Many would have had very little teaching of neuromuscular conditions in medical school and since leaving there would be little incentive to upskill unless they had a particular interest in this disease area. The symptoms associated with FSHD are relatively non-specific, this combined with the fact that FSHD is rare and the diagnostic methods not typical means many people who have FSHD can face years before they receive a definitive diagnosis.
Living with FSHD
FSHD is a progressive muscle wasting condition. For people with this condition and their families this means constant adaptation to new challenges. FSHD affects everyone differently and there is no definitive pattern of progression. Living with FSHD is highly individual.
These stories are from people who are currently living with FSHD.
While it is true that, at the moment, FSHD has no medical treatments that address muscle weakness and no cure, the effects of FSHD can still be managed.
Effective management of FSHD needs a team of people with the person with FSHD at the centre. Health professionals are obviously an important part of your care team and they should come from a range of different specialities to give you the support you need to manage FSHD.
Managing Your Health
There is a misconception that because there are no approved drug treatments for FSHD then there is nothing you can do.
While it is true that at the moment there has been no treatment that has been shown to stop progression or reverse damage caused by FSHD. There are many treatment techniques used at the moment that are applicable to FSHD and may provide some help and improve quality of life.
It’s important to note that many of the therapies listed below have little empirical evidence supporting their use in FSHD. This just means that studies have not been done on these treatments. 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.Read More
Clinical practice considerations in FSHD
In September 2015 the Foundation gathered a group of 13 international and Australian experts in FSHD to develop clinical guidance on diagnosis and management of FSHD. The statement was published in 2016 and details the standard of care people with FSHD should expect from their care team.
From this, FSHD Global has created a set of free and accessible educational tool kits for people living with FSHD and health care providers.
Download and share: