Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle wasting disease that weakens the face, arm and shoulders. The condition affects around 3000 people in Australia and currently has no treatment or cure.

Our researchers are making critical discoveries about the cause of FSHD that could lead to therapies for this debilitating condition.

FSHD research at the Institute

Our researchers are:

• Investigating the genes that are dysfunctional in people with FSHD
• Studying the epigenetic pathways that contribute to FSHD
• Performing screens to find drugs to treat or prevent FSHD

What is FSHD?

FSHD is a disease characterised by death of muscle cells and tissue leading to progressive muscle weakness. The name FSHD refers to the muscles typically affected:

• Face (facio)
• Shoulders (scapula)
• Upper arm (humeral)

The condition can appear at any time from infancy until a person is in their 50s, but is most commonly diagnosed in teenagers and young adults.

The condition usually progresses slowly, often with long periods of stability. Eventually, however, the loss of muscle strength can be extremely debilitating, resulting in difficulty walking, talking, smiling and eating.

Although most people with FSHD have a normal life expectancy, they can experience chronic pain, fatigue, loss of independence and social isolation due to their condition.

Symptoms of FSHD

The symptoms of FSHD are due to muscle weakness and may include:

• Inability to smile, whistle, close eyes completely (weak facial muscles)
• Difficulty throwing a ball, shoulder blades that “wing” out (weak shoulder blades)
• Loss of upper arm strength
• Protuberant abdomen, excessive curve in lower back (weak abdomal muscles)
• Weak leg muscles
• Foot drop (foot muscle weakness)
• Muscle pain
• Fatigue

The symptoms range in severity: some people are relatively unaffected by the condition, while others eventually require a wheelchair.

FSHD that presents during infancy is usually more severe than adult-onset FSHD and may also include hearing and vision loss. Men with FSHD tend to show an earlier onset of disease and worse symptoms than women.

Cause of FSHD

FSHD is an inherited disease, meaning it is caused by a change in DNA (genetic mutation) transmitted from parents to their children. Parents with the mutation have a 50 per cent chance of passing the condition on to each child.

There are two subtypes of FSHD caused by different genetic mutations:

• FSHD1 is due to a reduced number of copies of a DNA segment on chromosome 4. This is the most common type of FSHD.
• FSHD2 is caused by mutation in SMCHD1, a gene discovered by Institute researchers.

Both mutations lead to production of a protein that is toxic to muscle cells, leading to progressive muscle weakening.

How is FSHD treated?

There is currently no specific treatment or cure for FSHD. Approaches to manage the disease and alleviate symptoms include:

• Physiotherapy
• Exercise
• Diet
• Pain medication
• Speech therapy
• Surgery

Searching for a treatment

Scientists at our Institute are working towards developing targeted drugs for FSHD. Their work focuses on the gene SMCHD1, which is faulty in people with FSHD2. SMCHD1 is an epigenetic regulator that normally switches off expression of a protein that destroys muscle. Restoring SMCHD1 activity could potentially switch off the toxic protein and protect muscle function.

Our researchers are currently screening thousands of drug-like molecules in search of chemicals that boost SMCHD1 activity. Promising molecules will then be refined to develop drugs to treat FSHD or even prevent the disease in people carrying FSHD mutations.

Support for people with FSHD

Institute researchers are not able to provide specific medical advice to individuals. For further information, please visit the FSHD Global Research Foundation, Muscular Dystrophy Australia or consult your medical specialist.