Search for a rare disease
Other search option(s)
Native American myopathy
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:168572Classification level: Disorder
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.
A summary on this disease is available in Português (2009) Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009)
Disease review articles
- Clinical genetics review
- English (2019) - GeneReviews
: produced/endorsed by FSMR(s)
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.