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Neuropediatrics 2024; 55(03): 166-170
DOI: 10.1055/s-0044-1779619
Original Article

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

Aim The study aims to review all the genetically confirmed STAC3-related myopathy being followed in a single center in the Eastern Province of Saudi Arabia.

Methodology A retrospective review of all genetically confirmed STAC3-related myopathy followed in our clinic has been conducted.

Results 7 patients with STAC3-related myopathy have been found in our cohort, with all the patients presenting with infantile hypotonia, myopathic facies, and muscle weakness in the first year of life. Feeding difficulties and failure to thrive were found in all patients except one who died during the neonatal period. Respiratory muscle involvement was also found in 5 out of 6 formally tested patients while cleft palate was found in 5 patients.

Conclusion STAC3-related myopathy is a relatively rare, malignant hyperthermia (MH)--causing muscle disease described in specific, highly consanguineous populations. Making the diagnosis in myopathic patients with cleft palate preoperatively can prevent MH-induced, anesthesia-related perioperative complications.

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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