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Nemaline myopathy

rare

Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.

Identifiers
MONDO:0018958 Orphanet:607
Part of
Congenital structural myopathyHereditary skeletal muscle disorder
Also known as
congenital rod disease · NEM · nemaline body disease · nemaline rod disease · nemaline rod myopathy

Subtypes

All diseases Rare only
Disease Subtypes
Childhood-onset nemaline myopathy 6
Typical nemaline myopathy 6
Severe congenital nemaline myopathy 5
MYPN-related myopathy
Adult-onset nemaline myopathy
Congenital myopathy 4A, autosomal dominant
Nemaline myopathy 5
Nemaline myopathy 5B, autosomal recessive, childhood-onset
Nemaline myopathy 5C, autosomal dominant

Rare disease

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