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Myosin storage myopathy

Synonyms
Congenital myopathy 7A, myosin storage, autosomal dominant; MYH7-Related Myosin Storage Myopathy; MYH7-related late-onset scapuloperoneal muscular dystrophy; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; SCAPULOPERONEAL MUSCULAR DYSTROPHY; SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE; Scapuloperoneal myopathy, MYH7-related

Summary

Autosomal dominant myosin storage congenital myopathy-7A (CMYP7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (Dye et al., 2006; Pegoraro et al., 2007; review by Tajsharghi and Oldfors, 2013). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000). [from OMIM]

Available tests

84 tests are in the database for this condition.

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Clinical tests (84 available)

Molecular Genetics Tests

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  • Also known as: CMD1S, CMH1, CMYP7A, CMYP7B, MPD1, MYHCB, SPMD, SPMM, MYH7
    Summary: myosin heavy chain 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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