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GTR Home > Conditions/Phenotypes > Muscular dystrophy, congenital, with or without seizures

Muscular dystrophy, congenital, with or without seizures

Summary

Congenital muscular dystrophy with or without seizures (MYOS) is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy on MRI (summary by Larson et al., 2018 and Henige et al., 2021). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Bos1, EPM6, GS27, MYOS, GOSR2
    Summary: golgi SNAP receptor complex member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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