Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) often begins to show its symptoms in childhood or the teenage years. It's a muscle wasting disease, much like the other types of muscular dystrophy (MD).

The symptoms of Emery-Dreifuss muscular dystrophy (EDMD) are:

• early development of muscle contractures (muscle tightness)
• the spread of muscle weakness
• the effect on the heart
• spinal rigidity (lack of movement in the spine)

Muscle tightening (contractures) might make it hard for someone with EDMD to straighten their elbows or bend their neck.

In EDMD, contractures start earlier than in other types of MD, and they can make it difficult to move. They can leave the arms held in a semi-flexed (bent) position and limit how far the elbows move. Tightness across the ankles may also lead someone with EDMD to walk on their toes.

Like other types of MD, Emery-Dreifuss MD causes muscle weakness that gets worse over time. It normally begins in the shoulders, upper arms and lower legs. So lifting heavy objects, or raising the arms above the head, can become difficult.

Later on, the hip and thigh muscles might become weaker too. Things like walking up stairs can then be hard. If a person with Emery-Dreifuss MD becomes unable to walk, they might need a wheelchair.

This type of MD can also cause heart block, where the heart's electric signals are affected. That can bring palpitations, or a slow heartbeat, and it may lead to spells of lightheadedness or fainting. You might also feel tired or breathless.

Life expectancy might be shortened, but many people with EDMD reach middle age or later.

Emery-Dreifuss muscular dystrophy (EDMD) is often inherited as a sex linked (X-linked) trait. This means it affects only males, and it is carried by females who are not affected themselves. If a male has EDMD, his sons will not have it, but all his daughters will be carriers.

EDMD can also be inherited as an autosomal dominant trait, and this can affect anyone, male or female. With any autosomal dominant disorder, each child of an affected parent has a 50:50 chance of having the condition.

In the recessive form, neither parent has the condition, but both are carriers. Each future child then has a 1 in 4 chance of having EDMD.

Sometimes there's no family history at all, even in the X-linked and dominant forms. In these cases the disease comes from a new gene mutation, and that mutation can then be passed on to any future children.

Doctors use several methods to diagnose muscular dystrophy, including Emery-Dreifuss muscular dystrophy. Your doctor may use some or all of these:

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

Talk to a doctor if you or your child has:

• muscle weakness
• mobility problems

Read more about how muscular dystrophy is diagnosed

Emery-Dreifuss muscular dystrophy (EDMD) can't be cured, but there are treatments that can ease its symptoms.

Gentle exercise on a regular basis can help you keep your muscle strength in Emery-Dreifuss muscular dystrophy. Don't do hard physical exercise, though, such as weight training.

A healthy, balanced diet and a healthy weight will help lessen the load and stress on your weakened muscles.

Physiotherapy can help you work on your muscle strength and flexibility.

If you have Emery-Dreifuss muscular dystrophy, a doctor might offer you surgery to divide your heel tendons, which can help with walking. You might also be offered surgery for scoliosis.

Emery-Dreifuss muscular dystrophy (EDMD) is likely to cause heart problems. You'll see a cardiologist (heart specialist), who will do tests and keep a regular check on your heart.

You might have a pacemaker or an ICD (implantable cardioverter defibrillator) put in to help your heart work as it should. It can be placed below the skin of your chest, and it helps your heart keep a regular heartbeat.

If your chest muscles become weak, as can happen in Emery-Dreifuss muscular dystrophy, you might need a machine to help with your breathing. It can be particularly helpful while you sleep.

Bladder problems are common in people with muscle disorders like muscular dystrophy, and that includes Emery-Dreifuss muscular dystrophy.

You might have urinary incontinence, which means passing urine 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 have a sudden, urgent need to pass urine, medicine can sometimes help with that.

You might experience bowel problems like these with Emery-Dreifuss muscular dystrophy:

• chronic constipation
• diarrhoea with little warning
• bowel incontinence

Some people drink less water than is recommended so they can avoid going to the toilet during the day. This could cause dehydration, which can make constipation worse and add to bowel problems.

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

Read more about Emery-Dreifuss MD.