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Severe congenital nemaline myopathy
Disease definition
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:171430
Summary
Epidemiology
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.
Clinical description
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. Survival after infancy is rare.
Etiology
The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM.
Genetic counseling
NM is transmitted in an autosomal recessive fashion or occurs sporadically.
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2011, pdf)
- Clinical practice guidelines
- English (2012)
- Guidance for genetic testing
- English (2012, pdf)
- Clinical genetics review
- English (2015)
Additional information