Amish Nemaline Myopathy
Don’t fight Amish Nemaline Myopathy alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Amish Nemaline Myopathy and get the support you need.
Description
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.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Numerous pigmented freckles |
| Respiratory insufficiency due to muscle weakness |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Connect with other users with Amish Nemaline Myopathy on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
