Chabbi Naoufel, Angelini Corrado, Rodriguez Alicia Aurora
Abulkacem Chebbi Medical Center, Tunis 1089, Tunisia.
Campus Pietro D'Abano, University of Padova, 35128 Padova, Italy.
Muscles. 2023 Apr 3;2(2):164-176. doi: 10.3390/muscles2020012.
Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding muscle proteins that are defective for heterozygous and homozygous mutations prevalent in certain regions. Advances in knowledge of their pathophysiology have shed light on these rare diseases, which were, until recently, difficult to diagnose. This paper has described the process of diagnosis in autosomal recessive limb-girdle dystrophy that in Tunisia are due to the c.521del mutation in gamma-sarcoglycanopathy and to ethnically specific mutations in other countries such as Italy. The epidemiology, pathophysiology clinical features, and the main socioeconomic needs as well as research progress are discussed. We discuss an Italian case for its psychosocial impact and socioeconomic consideration and compare this case with Tunisian patients.
肢带型肌营养不良症（LGMDs）是一组由编码肌肉蛋白的单基因突变引起的肌肉疾病，这些突变在某些地区的杂合子和纯合子突变中存在缺陷。对其病理生理学认识的进展为这些罕见疾病带来了曙光，直到最近，这些疾病还难以诊断。本文描述了常染色体隐性肢带型肌营养不良症的诊断过程，在突尼斯，这种疾病是由γ-肌聚糖病中的c.521del突变引起的，而在其他国家如意大利，则是由种族特异性突变引起的。文中讨论了该病的流行病学、病理生理学、临床特征、主要的社会经济需求以及研究进展。我们讨论了一个意大利病例，分析了其社会心理影响和社会经济因素，并将该病例与突尼斯患者进行了比较。
