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GTR Home > Conditions/Phenotypes > Myopathy, sarcoplasmic body

Myopathy, sarcoplasmic body

Synonyms
MYOGLOBINOPATHY

Summary

Sarcoplasmic body myopathy (MYOSB), also known as myoglobinopathy, is an autosomal dominant disorder characterized by adult-onset muscle weakness affecting the proximal and distal muscles. Affected individuals usually present with proximal and axial muscle weakness leading to gait disturbances, although some present with hand muscle weakness and atrophy. The disorder is slowly progressive, and patients may lose ambulation after a long disease course. Some individuals develop respiratory or cardiac symptoms, often needing nocturnal ventilation. Other more variable features may include neck muscle weakness and dysphagia; facial muscle weakness is uncommon (Olive et al., 2019; Hama et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MYOSB, PVALB, MB
    Summary: myoglobin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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