" /> Emery-Dreifuss muscular dystrophy, X-linked - CISMeF





Preferred Label : Emery-Dreifuss muscular dystrophy, X-linked;

ICD-11 definition : X-linked Emery-Dreifuss muscular dystrophy-1 is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. It is clinically characterized 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.;

ICD-11 synonym : Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; EMD1 - [Emery-Dreifuss muscular dystrophy 1]; Emery-Dreifuss muscular dystrophy 1;

ICD-11 acronym : EMD1;

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X-linked Emery-Dreifuss muscular dystrophy-1 is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. It is clinically characterized 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.

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05/05/2025


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