Emery-Dreifuss muscular dystrophy

The symptoms of Emery-Dreifuss muscular dystrophy (EDMD) often start to develop during childhood or teenage years.

Like other types of muscular dystrophy (MD), it’s a muscle wasting disease.

Symptoms of EDMD

The symptoms of 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 cause someone with EDMD to have problems straightening their elbows or bending their neck.

Muscle contractures develop at an earlier stage in EDMD than in other types of MD. This can make it difficult to move. They can cause the arms to be held in a semi-flexed (bent) way and result in limited movement in the elbows. Someone with EDMD might be likely to walk on their toes because of tightness across the ankles.

Like other types of MD, Emery-Dreifuss MD causes progressive muscle weakness. This normally begins in the shoulders, upper arms and lower legs. Someone with this type of MD might find it difficult to lift heavy objects or lift their arms above their head.

Eventually, the hip and thigh muscles might become weaker. This can make things like walking up stairs difficult. People with Emery-Dreifuss MD might need a wheelchair if they become unable to walk.

This type of MD can also cause heart block, where it affects the heart’s electric signals. This can cause palpitations, or a slow heartbeat and may lead to periods of lightheadedness or fainting. You might also experience tiredness or breathlessness.

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

Causes of Emery-Dreifuss muscular dystrophy

In many cases, Emery-Dreifuss muscular dystrophy is inherited as a sex linked (X-linked) trait. This means it only affects males and is carried by females who are unaffected. Any male children of an affected male with EDMD will be unaffected, but any daughters will be carriers.

This condition can also be inherited as an autosomal dominant trait which can affect all sexes. In all autosomal dominant disorders, each child of an affected parent has a 50:50 chance of having the condition.

In the recessive form, both parents don’t have the condition but are carriers. There’s a 1 in 4 chance of any future children having EDMD.

Sometimes in X-linked and dominant cases of EDMD there’s no family history of the disorder. In these cases, the disease is as a result of a new gene mutation. This can then be passed onto any future children.

Diagnosis of Emery-Dreifuss muscular dystrophy

There are different methods used to diagnose muscular dystrophy.

Diagnosis might involve:

investigating your symptoms
family history
physical exam
blood tests including genetic tests
electrical tests on the nerves and muscles
muscle biopsy (where a sample of tissue is removed for testing)

Speak to your GP if you or your child has symptoms of:

muscle weakness
mobility problems

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.