Orphanet: Severe congenital nemaline myopathy

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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

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: G71.2
ICD-11: 8C72.00
OMIM: 161800 256030 615348 615731 616165
UMLS: C5680451
MeSH: -
GARD: 12821
MedDRA: -

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.

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.

Prognosis

Survival after infancy is rare.

Expert reviewer(s): Dr Monique RYAN - Last update: October 2011

A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Polski (2011, pdf)

Detailed information

General public

Article for general public
Svenska (2022) - Socialstyrelsen

Guidelines

Clinical practice guidelines
English (2012) - J Child Neurol

Anesthesia guidelines
English (2022) - Orphananesthesia

Disease review articles

Clinical genetics review
English (2015) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2012) - Eur J Hum Genet

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