Adult-Onset Nemaline Myopathy

External Ids:

Orphanet 59 ORPHA171442 UMLS via Orphanet 74 C0546123

ICD10 via Orphanet 34 G71.2 UMLS 73 C0546123

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171442Disease definitionAdult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents Clinical descriptionAdult onset NM occurs sporadically between 20 and 50 years of age. It presents with a generalized weakness, myalgia and rapid progression. Several cases have been associated with cardiomyopathy, dropped head syndrome and respiratory involvement. Muscle biopsy can reveal inflammatory changes. Monoclonal gammopathy and paresthesiae may be a marker of poor prognosis.Genetic counselingAdult onset NM is usually sporadic and no familial history of neuromuscular diseases is found.Visit the Orphanet disease page for more resources.

MalaCards based summary : Adult-Onset Nemaline Myopathy, also known as adult onset nemaline myopathy, is related to nemaline myopathy 3 and nemaline myopathy. Affiliated tissues include bone, and related phenotypes are high palate and flexion contracture

Search Clinical Trials , NIH Clinical Center for Adult-Onset Nemaline Myopathy

Search GEO for disease gene expression data for Adult-Onset Nemaline Myopathy.