Facioscapulohumeral muscular dystrophy (FSHD)

FSHD is a dominant inherited muscular dystrophy (MD). 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 is 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 could mean it was caused by a novel (new) mutation.

However, it is also possible 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 experiencing symptoms from around the same age their parent did. In some families, those with the condition continue to be affected severely throughout life. In others, it always stays mild.

Read more about the causes of FSHD

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 happens because the protein DUX4 gets made in muscle, where it is not normally found. DUX4 switches on genes that are not normally active in the muscle cell. This is toxic to the cell and can cause it to die, leading to muscle wasting and weakness.

There's no cure for FSHD and no specific drug treatment for it.

Regular exercise and hydrotherapy can help keep your muscles working for as long as possible.

Try to eat a healthy, balanced diet and stay at a healthy weight. This eases the strain on muscles that are already weakened.

Orthoses

Orthoses are devices that support the feet, and they can help people with FSHD. They can ease symptoms such as foot drop and shoulder weakness.

Surgery

FSHD can weaken the scapular muscles that attach your shoulder blades to your chest, making it hard to lift your arms. An operation called scapular fixation attaches the shoulder blades to the ribs at the back, and this helps some people with FSHD use their arms more.

If your eyes become dry and inflamed and won't close properly at night, surgery to bring the eyelids closer together may be offered, usually once artificial tears alone aren't enough.

Treatment for bladder problems

Bladder problems are common with muscle disorders like muscular dystrophy.

You might notice urinary incontinence, leaking urine by accident. This usually comes from weakness in the pelvic floor muscles along with weak core muscles.

You're more likely to have this if you:

• have poor mobility
• sit down for long periods

Pelvic floor exercises can help, and medication can sometimes ease a sudden, urgent need to pee.

Treatment for bowel problems

You might notice bowel problems such as:

• long term constipation
• diarrhoea with little warning
• bowel incontinence

Drinking less water than recommended, to avoid needing the toilet often, can lead to dehydration, which can worsen constipation and add to bowel problems.

A gentle laxative such as Lactulose, taken regularly through the week, may help.

Pain management

Pain is a common part of FSHD, and painkillers may be prescribed to help you manage it.