STAC3 相关肌病：七名沙特阿拉伯患者的队列报告

IF 1.1 4区医学 Q4 CLINICAL NEUROLOGY

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-02-16 DOI:10.1055/s-0044-1779619

Momen Almomen, Fawzia Amer, Fatima Alfaraj, Patrick G Burgon, Shahid Bashir, Fouad Alghamdi

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引用次数: 0

摘要

STAC3 相关肌病或美国原住民肌病（NAM）是一种遗传性常染色体隐性肌肉疾病，贝利和布洛赫于 1987 年首次在一名美国原住民身上描述了这种疾病。NAM 的特征是肌张力低下、小颌畸形、肌无力、关节畸形、腭裂、易患恶性高热（MH）和肌病面容。自首次描述 NAM 病症以来，全球已有更多病例被描述，中东地区也报告了三例。本研究介绍了属于三个家庭的七名沙特嗜铬细胞瘤患者。据我们所知，这是在阿拉伯半岛和中东地区报告的最大规模的队列。我们还将强调，在已描述过 NAM 的地区，对患有腭裂的肌病儿童术前考虑这种导致 MH 的疾病非常重要。

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

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.

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来源期刊

Neuropediatrics 医学-临床神经学

CiteScore

2.80

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： For key insights into today''s practice of pediatric neurology, Neuropediatrics is the worldwide journal of choice. Original articles, case reports and panel discussions are the distinctive features of a journal that always keeps abreast of current developments and trends - the reason it has developed into an internationally recognized forum for specialists throughout the world. Pediatricians, neurologists, neurosurgeons, and neurobiologists will find it essential reading.