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Emery-Dreifuss Dystrophy

By

Michael Rubin

, MDCM, New York Presbyterian Hospital-Cornell Medical Center

Last full review/revision Jul 2020| Content last modified Jul 2020
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NOTE: This is the Consumer Version. DOCTORS: Click here for the Professional Version
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Emery-Dreifuss dystrophy is a muscular dystrophy that is inherited in various ways. In addition to weakness and muscle wasting, people often have heart problems that may cause sudden death.

Muscular dystrophies are a group of inherited muscle disorders in which one or more genes needed for normal muscle structure and function are defective, leading to muscle weakness and muscle wasting (dystrophy) of varying severity.

Emery-Dreifuss dystrophy is inherited in various ways because different genes may be involved. Sometimes only one defective gene is needed, which can be inherited from either parent (autosomal dominant). Sometimes a defective gene must be inherited form both parents (autosomal recessive). Sometimes a defective gene can come from only the mother (X-linked recessive). The autosomal recessive form is the rarest. Only males are affected by the X-linked recessive form, but females may be carriers of the gene that causes it. Carriers are people who have an abnormal gene for a disorder but who do not have any symptoms or visible evidence of the disorder.

Symptoms

Muscles become weak and waste away (atrophy) beginning any time before age 20 years. The most affected muscles are those of the upper arms, lower legs, and heart. The muscles of the arms and legs tighten in permanent, flexed positions called contractures. The heart muscle can also be affected. An affected heart commonly causes sudden death.

Diagnosis

Doctors suspect the diagnosis of Emery-Dreifuss dystrophy based on the boy's symptoms and family history.

To confirm the diagnosis, doctors usually do blood tests to measure levels of the enzyme creatine kinase in the blood, electrical studies of muscle function (electromyography), muscle biopsy (examination of a sample of the weak muscle tissue under a microscope), and genetic testing.

Treatment

  • Therapy to prevent contractures

Physical therapy can help prevent contractures.

Heart pacemakers may help prolong life if heart rhythms are abnormal.

More Information

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

NOTE: This is the Consumer Version. DOCTORS: Click here for the Professional Version
Click here for the Professional Version
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