Amish Nemaline Myopathy
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 98902
Definition
A type of nemaline myopathy (NM) only observed in several families of the Amish community.
Clinical description
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.
Etiology
TNNT1 (19q13.4) is the causative gene of the Amish NM.
Genetic counseling
Transmission follows an autosomal recessive pattern.
Prognosis
Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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| Numerous pigmented freckles |
| Respiratory insufficiency due to muscle weakness |
An unknown % of people have these symptoms.
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