" /> Amish nemaline myopathy - CISMeF





Preferred Label : Amish nemaline myopathy;

ICD-11 definition : 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.;

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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.

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29/07/2025


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