Facioscapulohumeral muscular dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of MD. It affects all genders. Males are likely to experience more severe symptoms at an earlier stage.

FSHD is caused by a genetic mutation which deletes some of the DNA on chromosome 4. This switches on a gene which is toxic to muscles.

Some people with FSHD aren’t aware they have the condition until they’re an adult. FSHD progresses slowly and doesn’t usually shorten life expectancy.

Children with FSHD are likely to experience more severe symptoms.

Symptoms of FSHD

Symptoms of FSHD in children might include:

their eyes being slightly open when sleeping
not being able to squeeze their eyes shut tightly
not being able to purse their lips

Older children and adults might have rounded shoulders and thin, weak upper arms. This can cause pain in the shoulders and back.

In adulthood, FSHD usually affects the:

face (facio)
shoulders (scapula)
upper arms (humeral)
back
calves
pelvic girdle muscles
ankles (foot drop)

In over half of those with FSHD there can be weakness at the knees, hips and back. This can cause a backward leaning and high stepping style of walking. Sometimes, there can be a different change in posture with a tendency to bend forwards rather than backwards.

The earlier in life someone has FSHD symptoms, the more severe their symptoms will eventually be. Men, and those assigned male at birth, tend to experience more severe weakness and will have symptoms from a younger age than women and those assigned female at birth.

The condition can develop unevenly (asymmetrically). One side of the body might be affected more than the other.

About 10-20% of people with FSHD eventually require a wheelchair.

People with FSHD can often experience pain.

Some people with FSHD will develop hearing loss. This is more common in people who develop FSHD during childhood.

Causes of FSHD

FSHD is a dominant inherited muscular dystrophy. If you have a dominant inherited MD, you only need to inherit the altered gene from one parent to be affected.

This means, if you have a child with someone who doesn’t have MD there’s still a 1 in 2 chance your child will develop the condition.

Family history

Most of the time, FSHD is inherited from either parent.

Occasionally, someone with FSHD, especially if it was diagnosed in early childhood, may not have inherited it from either parent. This means it could be caused by a novel (new) mutation.

However, it could be that the symptoms of a family member were very mild or they’d been misdiagnosed.

Children who inherit the faulty gene are likely to start experiencing symptoms from a similar age as their parent did. There will be some families where those with the condition will continue to be affected severely or where it will always be mild.

Diagnosing Facioscapulohumeral muscular dystrophy

A blood test can often detect the DNA mutation that causes FSHD.

The genetics of FSHD are more complex than other muscle wasting conditions. FSHD is caused by the protein DUX4 being produced in the muscle where it’s not normally found. DUX4 ‘switches on’ genes that are not normally active in the muscle cell. It’s toxic for the cell and can lead to its death causing muscle wasting and weakness.

Treatments of Facioscapulohumeral muscular dystrophy (FSHD)

There’s no cure for FSHD and there are no specific drug treatments.

Regular exercise and hydrotherapy can help to maintain muscle function for as long as possible.

Try to eat a healthy balanced diet and maintain a healthy weight. This will help to reduce stress on the already weakened muscles.

Orthoses

Using orthoses (devices that support the feet) can help people with FSHD. They can improve FSHD symptoms like foot drop and shoulder weakness.

Surgery

FSHD can cause the scapular muscles, which attach the shoulder blades to your chest, to become weak. This can make lifting your arms difficult. There’s an operation called scapular fixation which fixes the shoulder blades to the ribs at the back. This can help some people with FSHD to regain some more use of their arms.

If your eyes become dry and inflamed and you can’t close them at night, you might be offered surgery to bring the eyelids closer. This option would be considered if artificial tears are not helping.