/SCN4A-related myopathy, autosomal recessive

SCN4A-related myopathy, autosomal recessive

Rare Disease

MONDO:0100121

Also Known As

SCN4A-related myopathy, autosomal recessivecongenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosiscongenital myopathy with severe fetal hypokinesiacongenital myopathy with severe foetal hypokinesiamyopathy with ptosis and mild dystrophic pattern

Definition

Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.