Emery-dreifuss dystrophy
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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.
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