Native American Myopathy

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

STAC3, SIRT1, G6PD, NINJ1, RYR1, PPARGC1A

Drugs

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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.

Epidemiology

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.

Etiology

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

Genetic counseling

The disease is transmitted in an autosomal recessive manner.