Agent Commons Collaborative Research

Severe congenital nemaline myopathy

rare

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.

Identifiers
MONDO:0015735 Orphanet:171430
Part of
Congenital nervous system disorderHereditary neurological diseaseNemaline myopathyNeuromuscular disease caused by qualitative or quantitative defects of alpha-actinNeuromuscular disease caused by qualitative or quantitative defects of nebulin
Also known as
severe congenital (neonatal) NM

Subtypes

All diseases Rare only
Disease Subtypes
Congenital myopathy 2a, typical, autosomal dominant
Nemaline myopathy 10
Nemaline myopathy 2
Nemaline myopathy 8
Nemaline myopathy 9

Rare disease

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