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GTR Home > Conditions/Phenotypes > Congenital myopathy 11

Congenital myopathy 11

Synonyms
Myopathy, congenital, nonprogressive

Summary

Congenital myopathy-11 (CMYO11) is an autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, resulting in early feeding problems, motor delay, and walking difficulties. However, the course of the disease is nonprogressive: most affected individuals achieve independent ambulation and tend to show improvement of muscle weakness throughout childhood and early adulthood. There is no respiratory or cardiac involvement; cognitive development is normal. Muscle biopsy may show rare centralized nuclei, type 1 fiber hypotrophy, and type 1 fiber predominance, suggestive of a pathologic diagnosis of congenital fiber-type disproportion (CFTD). However, the findings on skeletal muscle biopsy may be nonspecific (Muhammad et al., 2013). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CAP, CMYO11, CMYP11, MYONP, PTPLA, HACD1
    Summary: 3-hydroxyacyl-CoA dehydratase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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