Severe Congenital Nemaline Myopathy

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Orphanet 59 ORPHA171430 ICD10 via Orphanet 34 G71.2

SNOMED-CT via HPO 69 204888000 34911001 276709006 95515009 16110005 249697003 276369006 86203003 282020008 367494004 49550006 249101006 6096002 288939007 40739000 80825009 255385008 43994002 111246005 77016009 409622000 74035001 443710002 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171430Disease definitionSevere congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.EpidemiologyThe 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 descriptionNeonates 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.EtiologyThe ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM.Genetic counselingNM 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 myopathy and nemaline myopathy. 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 bone and skeletal muscle, and related phenotypes are low-set ears and dysphagia

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

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