Resumen:
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”.
