" /> Miyoshi muscular dystrophy 1 - CISMeF





Preferred Label : Miyoshi muscular dystrophy 1;

Symbol : MMD1;

CISMeF acronym : MMD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, distal, late-onset, autosomal recessive; Miyoshi myopathy;

Description : Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tip-toe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). - Genetic Heterogeneity of Miyoshi Muscular Dystrophy Miyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 (613318) has been mapped to chromosome 10p, and MMD3 (613319) is caused by mutation in the ANO5 gene (608662) on chromosome 11p14. See also Welander myopathy (604454), an autosomal dominant form of late-onset distal myopathy.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dysferlin gene (DYS, 603009.0001);

Laboratory abnormalities : Increased creatine kinase;

Prefixed ID : #254130;

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27/07/2025


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