Medicina · 2025
Duchenne muscular distrophy in Tafí del Valle, Tucumán, Argentina.
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Sarandría María Eugenia, Rey Roberto, De Rosa Rodrigo, Corbalán Vanesa, Mesa Lilia
Аннотация
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".
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".