Catalog

Amish nemaline myopathy

No MMS code

Link to WHO Definition

Amish nemaline myopathy – http://id.who.int/icd/entity/46578428

Amish nemaline myopathy is a type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subsides after 2-3 months of age. Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency.