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nemaline myopathy 5

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.
Uniprot Description A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year.
Mondo Term and Equivalent IDs
MONDO:0011539:  nemaline myopathy 5
GARD:0008334: 
MESH:C538397: 
Orphanet:98902: 
UMLS:C1854380: