Overview

Very rare congenital myopathy with autosomal recessive transmission of a mutation of STAC3 gene (12q13.3-14.1) coding for a protein involved in the excitation-contraction coupling in the striated muscle and interacting with the RYR1 and DHPR complexes. Frequent in the Lumbee American Indian population (North Carolina) but some cases have been recently reported in other populations.

Presentation

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.

Impacts on anaesthesia

Requires a malignant hyperthermia "trigger-free" anaesthetic