Myopathy, Congenital, Nonprogressive

Alternative Names

  • MYONP
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

619967

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10p12.33

Description

Nonprogressive congenital myopathy (MYONP) 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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
255310.1United Arab EmiratesMaleNoYes Muscle weakness; Poor suck; Failure to...NM_014241.3:c.458G>AHomozygousAutosomal, RecessiveAbbasi-Moheb et al. 2021 Proband
255310.2IraqFemale Muscle weakness; MyopathyNM_014241.4:c.373_375+2delHomozygousAutosomal, RecessiveAbbasi-Moheb et al. 2021 Proband
255310.3Saudi ArabiaMaleNoYes Pectus excavatum; hypotonia; Persisten...NM_014241.4:c.785-1G>THomozygousAutosomal, RecessiveAbbasi-Moheb et al. 2021 Proband
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