Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy is often inherited in a sex linked, or X linked, pattern. In practice, this means the condition mostly shows up in males, while females carry the altered gene without developing symptoms themselves. If a father has EDMD, none of his sons will inherit it from him, but every one of his daughters will become a carrier.

The condition can also be passed down as an autosomal dominant trait, which can affect people of any sex. With autosomal dominant inheritance, each child born to an affected parent has a 50 percent chance of developing the condition.

There is also a recessive form, where neither parent has the condition themselves but both carry the altered gene. In this situation, each future child has a 1 in 4 chance of having EDMD.

Occasionally, in the X linked and dominant forms, a person is diagnosed with no known family history of the disorder. Here, the condition arises from a new gene mutation occurring for the first time in that person. Once present, this new mutation can then be passed on to their own children.

Doctors use several tests to diagnose muscular dystrophy. This can include:

• looking at your symptoms
• asking about family history
• physical exam
• blood tests including genetic tests
• electrical tests on the nerves and muscles
• muscle biopsy (removing a small sample of tissue for testing)

Contact your GP practice if you or your child has:

• muscle weakness
• mobility problems

Read more about how muscular dystrophy is diagnosed.

Treatment of Emery-Dreifuss muscular dystrophy

There is no cure for EDMD but there are treatments that can improve the symptoms.

Muscle strength

Regular gentle exercise can help maintain muscle strength. You shouldn’t do hard physical exercise like weight training.

Eating a healthy balanced diet and maintaining a healthy weight will help to minimise the burden and stress on your weakened muscles.

Physiotherapy can help you work on muscle strength and flexibility.

Surgery

You might be offered surgery to divide your heel tendons to help with walking.

You might be offered surgery for scoliosis.

Heart problems

EDMD is likely to cause heart problems. You’ll see a cardiologist (heart specialist) for tests and monitoring.

You might have a pacemaker or an ICD (implantable cardioverter defibrillator) inserted to help with your heart function. This can be inserted below the skin in your chest. It helps your heart maintain a regular heartbeat.

Breathing problems

If your chest muscles become weak, you might need a machine to help with your breathing. This can be particularly helpful while sleeping.

Bladder problems

Bladder problems are common in patients with muscle disorders like muscular dystrophy.

You might experience urinary incontinence, where you pee by accident. This is often caused by weakness of the pelvic floor muscles, combined with weakness of the core muscles.

You’re more likely to experience urinary incontinence if you:

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

Pelvic floor exercise may be helpful. An urgent need to pee can sometimes be helped with medication.

Bowel problems

You might experience bowel problems like:

• chronic constipation
• diarrhoea with little warning
• bowel incontinence

If you tend to drink less water than is recommended to avoid going to the toilet during the day this could cause dehydration. This can make constipation worse and contribute to bowel problems.

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

Read more about Emery-Dreifuss MD

Don’t include personal information e.g. name, location or any personal health conditions.