Orphanet: Native American myopathy
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Native American myopathy

Disease definition

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.

ORPHA:168572

Classification level: Disorder
  • Synonym(s):
    • Congenital myopathy-cleft palate-malignant hyperthermia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.2
  • OMIM: 255995
  • UMLS: C1850625
  • MeSH: C538343
  • GARD: 8432
  • MedDRA: -

Summary

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.

- Last update: February 2009

  A summary on this disease is available in Português (2009) Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.