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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: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: G71.2
  • OMIM: 605355
  • UMLS: -
  • MeSH: -
  • GARD: 8334
  • MedDRA: -

Summary

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.

Expert reviewer(s):  Dr Monique RYAN - Last update: October 2010

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.