阿根廷Tafí del Valle的杜氏肌萎缩症。

IF 0.6 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Medicina-buenos Aires Pub Date : 2025-01-01

María Eugenia Sarandría, Roberto Rey, Rodrigo De Rosa, Vanesa Corbalán, Lilia Mesa

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引用次数: 0

摘要

简介杜兴氏肌营养不良症（DMD）是一种遗传性 X 连锁神经肌肉疾病，全球累计发病率为每 10 万名男性中有 7.1 例。近亲结婚与 DMD 之间的关系已有报道。我们的目的是描述 DMD 患者在 Tafí del Valle（阿根廷图库曼）一个孤立人群中的患病率以及社会人口学、临床和遗传学特征：横断面、描述性流行病学研究。人口统计学、临床和遗传学数据均来自医疗记录。结果：七名男性重症肌营养不良症（DMD）患者中，有一人患有重症肌营养不良症（DMD），另一人患有重症肌营养不良症（DMD）：结果：共发现七名迪亚吉塔-卡尔查基（Diaguita-Calchaquí）罹患 DMD 的男性患者（中位年龄：14 岁），发病率为 0.12%。报告的变异有五种。在血统图中未发现近亲关系：讨论：在Tafí del Valle地区发现了异常高的DMD患病率。此外，7 名患者中有 5 种不同的基因突变，这表明 "新发 "基因突变的数量很高。

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Duchenne muscular distrophy in Tafí del Valle, Tucumán, Argentina.

Introduction: Duchenne muscular dystrophy (DMD) is an inherited, X-linked neuromuscular disorder with a global cumulative prevalence of 7.1 cases every 100 000 males. A relationship between consanguinity and DMD has been reported. We aimed to describe the prevalence and the sociodemographic, clinical and genetic characteristics of patients with DMD in an isolated population in Tafí del Valle (Tucumán, Argentina).

Materials and methods: Cross-sectional, descriptive, epidemiological study. Demographic, clinical and genetic data were retrieved from medical records. Pedigree charts were made after an interview with the family group.

Results: Seven male patients with DMD of DiaguitaCalchaquí ethnicity were identified (median age: 14 years old), with a prevalence of 0.12%. Five different mutations were reported. No consanguinity was identified in pedigree charts.

Discussion: An unusual high prevalence of DMD was identified in Tafí del Valle. In addition, there are 5 different mutations in seven patients suggesting a high number of mutations "de novo".

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