Department of Clinical Science, College of Medicine, Princess Nourah Bint Abdulrahman University, Saudi Arabia.
Eur Rev Med Pharmacol Sci. 2021 Aug;25(15):4941-4952. doi: 10.26355/eurrev_202108_26451.
Limb-girdle muscular dystrophies (LGMD) is a heterogeneous group of genetic disorders characterized by progressive weakness of pelvic and shoulder girdle muscles. The objective is to characterize the phenotypic, pathological, radiological, and genetic findings in LGMD2A phenotype (Calpainopathies).
The National Saudi Arabian LGMD cohort database was screened for LGMD from January 2000 to January 2021. A descriptive cross-sectional study was done on a total of 112 families with LGMD. Screening for mutation in Calpain (CAPN3) gene was done. Clinical and genetic features of LGMD2A phenotype were the main outcome variables. Epi-info was used for statistical analysis.
34 subjects from 22 families (19.64%) had the specific LMGD2A phenotype. The mean age of onset was 9.9 ± 4.5 years (Range 4 to 19 years). The major initial symptoms were lower limb weakness, inability to climb stairs, and gait disturbance. Gower's sign occurred on an average of 3.75 to 7.25 years after onset. Loss of ambulation was observed in 55.8%. Two novel mutations in the CAPN3 gene were identified.
The prevalence of LGMD2A was 19.64% among the national Saudi Arabian LGMD cohort. The clinical presentation was varied and was consistent with other reports from different ethnic groups.
肢带型肌营养不良症（LGMD）是一组具有遗传异质性的疾病，其特征为骨盆带和肩胛带肌肉进行性无力。本研究旨在描述 LGMD2A 表型（钙蛋白酶病）的表型、病理学、影像学和遗传学特征。
从 2000 年 1 月至 2021 年 1 月，对沙特阿拉伯全国性 LGMD 队列数据库进行 LGMD 筛查。对总共 112 个 LGMD 家系进行了描述性横断面研究。对钙蛋白酶（CAPN3）基因的突变进行了筛查。LGMD2A 表型的临床和遗传特征是主要的观察变量。采用 Epi-info 进行统计学分析。
22 个家系中有 34 名（19.64%）患者具有特定的 LGMD2A 表型。发病的平均年龄为 9.9 ± 4.5 岁（范围 4-19 岁）。主要的初始症状为下肢无力、无法爬楼梯和步态障碍。戈氏征平均在发病后 3.75-7.25 年出现。55.8%的患者丧失了行走能力。在 CAPN3 基因中发现了 2 个新的突变。
沙特阿拉伯全国性 LGMD 队列中 LGMD2A 的患病率为 19.64%。临床表现多样，与来自不同种族的其他报道一致。
