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Severe congenital nemaline myopathy
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.
ORPHA:171430Classification level: Disorder
The annual incidence of NM has been estimated at 1/50,000 live births and the severe congenital form might represent 10-20% of all cases.
Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur.
The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM.
NM is transmitted in an autosomal recessive fashion or occurs sporadically.
Survival after infancy is rare.
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