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Neuropediatrics
DOI: 10.1055/s-0044-1779619
Short Communication

STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients

Momen Almomen 
1   Department of Neuroscience, King Fahd Specialist Hospital, Dammam, Saudi Arabia
,
Fawzia Amer 
1   Department of Neuroscience, King Fahd Specialist Hospital, Dammam, Saudi Arabia
2   Department of Pediatric Neurology and Metabolic Division, Kasr AlAiny School of Medicine, Cairo University, Cairo, Egypt
,
Fatima Alfaraj
3   Pulmonary Division, Department of Internal Medicine, King Fahd Specialist Hospital, Dammam, Saudi Arabia
,
Patrick G. Burgon
4   Department of Chemistry and Earth Sciences, College of Arts and Sciences, Qatar University, Doha, State of Qatar
,
Shahid Bashir
1   Department of Neuroscience, King Fahd Specialist Hospital, Dammam, Saudi Arabia
,
Fouad Alghamdi
1   Department of Neuroscience, King Fahd Specialist Hospital, Dammam, Saudi Arabia
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Abstract

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.

Keywords

STAC3 - myopathy - malignant hyperthermia - cleft palate


Publication History

Received: 24 December 2023

Accepted: 10 January 2024

Article published online:
16 February 2024

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