Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.
Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is approximately 2:10,000; however, birth incidence remains unknown.
Stamm
Demetra S
DS
Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, North Carolina, USA.
Aylsworth
Arthur S
AS
Stajich
Jeffrey M
JM
Kahler
Stephen G
SG
Thorne
Leigh B
LB
Speer
Marcy C
MC
Powell
Cynthia M
CM
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D009657:North Carolina; D020641:Polymorphism, Single Nucleotide; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D013577:Syndrome
D019837:Ryanodine Receptor Calcium Release Channel