Severe Congenital Nemaline Myopathy

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ICD10 via Orphanet 33 G71.2 Orphanet 58 ORPHA171430

SNOMED-CT via HPO 68 111246005 16110005 204888000 249101006 249697003 255385008 276369006 276709006 282020008 288939007 34911001 367494004 40739000 409622000 43994002 443710002 49550006 6096002 74035001 77016009 80825009 86203003 95515009 more

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171430 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. 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Severe Congenital Nemaline Myopathy, also known as severe congenital nm, is related to nemaline myopathy and myopathy, congenital. An important gene associated with Severe Congenital Nemaline Myopathy is NEB (Nebulin), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and skeletal muscle atrophy

Search Clinical Trials , NIH Clinical Center for Severe Congenital Nemaline Myopathy

Search GEO for disease gene expression data for Severe Congenital Nemaline Myopathy.