Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Childhood-onset nemaline myopathy · Severe congenital nemaline myopathy · Alpha-actinopathy · Intermediate nemaline myopathy · Typical nemaline myopathy
Congenital myopathy 2a, typical, autosomal dominant
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.
This condition has no sub-types.