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Amish nemaline myopathy
Disease definition
A type of nemaline myopathy (NM) only observed in several families of the Amish community.
ORPHA:98902
Classification level: DisorderSummary
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.
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- English (2022)
- Guidance for genetic testing
- English (2012)
- Clinical genetics review
- English (2015)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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