{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:17Z","timestamp":1740126797157,"version":"3.37.3"},"reference-count":47,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital myopathy type 13 (CMYO13), also known as Native American myopathy, is a rare muscle disease characterized by early-onset hypotonia, muscle weakness, delayed motor milestones, and susceptibility to malignant hyperthermia. The phenotypic spectrum of congenital myopathy type 13 is expanding, with milder forms reported in non-native American patients. The first description of the disease dates to 1987 when Bailey and Bloch described an infant belonging to a Native American tribe with cleft palate, micrognathia, arthrogryposis, and general-anesthesia-induced malignant hyperthermia reaction; the cause of the latter remains poorly defined in this rare disease. The pan-ethnic distribution, as well as its predisposition to malignant hyperthermia, makes the identification of CMYO13 essential to avoid life-threatening, anesthesia-related complications. In this article, we are going to review the clinical phenotype of this disease and the pathophysiology of this rare disease with a focus on two unique features of the disease, namely cleft palate and malignant hyperthermia. We also highlight the importance of recognizing this disease's expanding phenotypic spectrum\u2014including its susceptibility to malignant hyperthermia\u2014and providing appropriate care to affected individuals and families.<\/jats:p>","DOI":"10.1055\/a-2271-8619","type":"journal-article","created":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T23:53:55Z","timestamp":1708473235000},"page":"149-155","source":"Crossref","is-referenced-by-count":0,"title":["Why Craniofacial Surgeons\/Researchers Need to be Aware of Native American Myopathy?"],"prefix":"10.1055","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7938-2659","authenticated-orcid":false,"given":"Momen","family":"Almomen","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick G.","family":"Burgon","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Earth Sciences, College of Arts and Sciences, Qatar University, State of Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,3,26]]},"reference":[{"issue":"10","key":"ref1","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1213\/00000539-198710000-00028","article-title":"Malignant hyperthermia in a three-month-old American Indian infant","volume":"66","author":"A G Bailey","year":"1987","journal-title":"Anesth Analg"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/0887-8994(88)90086-0","article-title":"Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome?","volume":"4","author":"C R Stewart","year":"1988","journal-title":"Pediatr 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