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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
Click here for the Professional Version

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.

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 Dominant disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more ). Sometimes a defective gene must be inherited form both parents (autosomal recessive Recessive disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more ). Sometimes a defective gene can come from only the mother (X-linked recessive Recessive x-linked disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more ). 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 of Emery-Dreifuss Dystrophy

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 of Emery-Dreifuss Dystrophy

Treatment of Emery-Dreifuss Dystrophy

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
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