Emery-Dreifuss muscular dystrophy, X-linked (Q90639): Difference between revisions
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A distrofia muscular de Emery-Dreifuss 1 ligada ao X é uma miopatia degenerativa caracterizada por fraqueza e atrofia do músculo sem envolvimento do sistema nervoso. É clinicamente caracterizada por deformidades em flexão dos cotovelos que datam da primeira infância, peito escavado leve, sinais de envolvimento cardíaco e ausência de pseudo-hipertrofia muscular, envolvimento dos músculos do antebraço e retardo mental. É causada por mutação no gene que codifica a emerina no cromossomo Xq28. | |||
| description / en | description / en | ||
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. | |||
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 |
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| default for all languages | ID_516501338 |
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| 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. |
