/congenital myopathy 2a, typical, autosomal dominant

congenital myopathy 2a, typical, autosomal dominant

Rare Disease

MONDO:0008070

Also Known As

ACTA1 nemaline myopathyCMYO2Aactin accumulation myopathyactin accumulation myopathy (disorder)actin myopathycongenital myopathy 2a, typical, autosomal dominantcongenital myopathy with excess of thin filamentsnemaline myopathy 3, autosomal dominant or recessivenemaline myopathy caused by mutation in ACTA1nemaline myopathy type 3NEM3myopathy, actin, congenital, with Excess of thin myofilamentsmyopathy, actin, congenital, with coresnemaline myopathy 3nemaline myopathy 3, with intranuclear rods

Definition

An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.