Merck Manual

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Emery-Dreifuss Dystrophy

By

Michael Rubin

, MDCM, New York Presbyterian Hospital-Cornell Medical Center

Reviewed/Revised Jan 2024
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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.

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 or code for functional RNA molecules.... 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 or code for functional RNA molecules.... 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 or code for functional RNA molecules.... 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

Diagnosis of Emery-Dreifuss Dystrophy

Treatment of Emery-Dreifuss Dystrophy

More Information

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

NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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