Intermediate Congenital Nemaline Myopathy

External Ids:

Orphanet 59 ORPHA171433

ICD10 via Orphanet 34 G71.2

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171433Disease definitionIntermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases.Clinical descriptionNeonates with intermediate NM present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures.EtiologyThe ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with intermediate NM and the transmission pattern of the disease is autosomal recessive or dominant.Visit the Orphanet disease page for more resources.

MalaCards based summary : Intermediate Congenital Nemaline Myopathy, also known as intermediate nemaline myopathy, is related to cap myopathy and foot drop. An important gene associated with Intermediate Congenital Nemaline Myopathy is TPM3 (Tropomyosin 3), and among its related pathways/superpathways is Striated Muscle Contraction. Related phenotype is muscle.

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

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