Facioscapulohumeral muscular dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of MD. It affects people of all genders, though males are likely to have more severe symptoms, and to have them earlier.

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

Some people with FSHD don't know they have it until they're adults. The condition progresses slowly and doesn't usually shorten life expectancy. Children with FSHD are likely to have more severe symptoms.

In children, facioscapulohumeral muscular dystrophy (FSHD) might show up as:

• 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 the change in posture is different, with a tendency to bend forwards rather than backwards.

The earlier in life someone has symptoms, the more severe they will eventually be. Males tend to have more severe weakness, and their symptoms start at a younger age than in females.

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

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

Pain is often part of life for people with the condition.

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

Facioscapulohumeral muscular dystrophy (FSHD) is a dominant inherited muscular dystrophy. With a dominant inherited MD, you only need to inherit the altered gene from one parent to be affected.

So 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.

Most of the time, facioscapulohumeral muscular dystrophy (FSHD) is inherited from either parent.

Occasionally, a person with FSHD hasn't inherited it from either parent, especially if it was diagnosed in early childhood. In that case it could be caused by a novel (new) mutation.

But it could also be that a family member's symptoms were very mild, or that they had been misdiagnosed.

Children who inherit the faulty gene are likely to start having symptoms at a similar age to their parent. In some families, those with the condition will continue to be severely affected. In others, it will always be mild.

Read more about the causes of FSHD

A blood test can often find the DNA mutation that causes facioscapulohumeral muscular dystrophy (FSHD).

The genetics of FSHD are more complex than in other muscle wasting conditions. The condition is caused by a protein called DUX4 being made in the muscle, where it isn't normally found. DUX4 "switches on" genes that are not normally active in the muscle cell. This is toxic for the cell and can lead to its death, which causes muscle wasting and weakness.

There's no cure for facioscapulohumeral muscular dystrophy (FSHD), and no specific drug treatments exist for it either.

Regular exercise and hydrotherapy can help your muscles keep working for as long as possible. Try to eat a healthy, balanced diet and keep to a healthy weight too, because this takes some of the stress off muscles that are already weakened.

People with facioscapulohumeral muscular dystrophy (FSHD) can find orthoses helpful. These are devices that support the feet. They can ease symptoms such as foot drop and shoulder weakness.

FSHD (facioscapulohumeral muscular dystrophy) can weaken the scapular muscles, the ones that attach your shoulder blades to your chest. When that happens, lifting your arms can become difficult. There's an operation called scapular fixation, which fixes the shoulder blades to the ribs at the back. It can help some people with FSHD get back some more use of their arms.

Sometimes the eyes become dry and inflamed, and you can't close them at night. In that case you might be offered surgery to bring the eyelids closer together. Doctors would consider this only if artificial tears are not helping.

Bladder problems are common in people with muscle disorders like muscular dystrophy, and that includes facioscapulohumeral muscular dystrophy (FSHD).

You might have urinary incontinence, which means you pee by accident. The usual cause is weakness of the pelvic floor muscles together with weakness of the core muscles.

You're more likely to have urinary incontinence if you:

• have poor mobility
• spend a lot of time sitting down

Pelvic floor exercise may help. If you feel an urgent need to pee, medicine can sometimes help with that.

With facioscapulohumeral muscular dystrophy (FSHD), you might have bowel problems such as:

• chronic constipation
• diarrhoea with little warning
• bowel incontinence

Some people drink less water than is recommended so they don't have to go to the toilet during the day. If you do this, you could become dehydrated, and that can make constipation worse and add to your bowel problems.

Taking a gentle laxative like Lactulose regularly during the week may help.

Pain is a common part of facioscapulohumeral muscular dystrophy (FSHD), and many people live with it as one of their symptoms. You might be prescribed painkillers to help manage it.