Emery-Dreifuss muscular dystrophy, X-linked (Q90639): Difference between revisions

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Latest revision as of 17:37, 15 August 2026

X-linked Emery-Dreifuss muscular dystrophy-1 is a degenerative myopathy characterised by weakness and atrophy of muscle without involvement of the nervous system. It is clinically characterised by flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation. It is caused by mutation in the gene encoding emerin on chromosome Xq28.

Language	Label	Description	Also known as
default for all languages	ID_516501338
English	Emery-Dreifuss muscular dystrophy, X-linked	X-linked Emery-Dreifuss muscular dystrophy-1 is a degenerative myopathy characterised by weakness and atrophy of muscle without involvement of the nervous system. It is clinically characterised by flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation. It is caused by mutation in the gene encoding emerin on chromosome Xq28.