STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients.
Momen Mohammed A AlmomenFawzia AmerFatima AlfarajPatrick G BurgonShahid BashirFouad AlghamdiPublished in: Neuropediatrics (2024)
STAC3-related myopathy, or Native American myopathy (NAM), is a genetically inherited, autosomal recessive muscle disease that was first described in a Native American by Bailey and Bloch in 1987. NAM is characterized by hypotonia, micrognathia, muscle weakness, arthrogryposis, cleft palate, susceptibility to malignant hyperthermia (MH), and myopathic facies. Since the first description of NAM, more cases have been described worldwide, with three cases reported from the Middle East. This study presents a cohort of seven Saudi NAM patients belonging to three families. To our knowledge, this cohort is the largest to be reported in the Arabian Peninsula and the Middle Eastern region. We will also highlight the importance of considering this MH-causing disease preoperatively in myopathic children with cleft palate in areas where NAM has been described.