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Native American myopathy

ORPHA168572
Synonym(s) Congenital myopathy - cleft palate - malignant hyperthermia
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • G71.2
OMIM
UMLS
  • C1850625
MeSH
  • C538343
MedDRA -

Summary

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NAM is reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence of NAM is estimated at approximately 1:5,000.

The NAM locus has been localized to 12q13.13-14.1.

The disease is transmitted in an autosomal recessive manner.


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