title: [Duchenne and Becker muscular dystrophy in Chile].
abstract: Duchenne muscular dystrophy is one of the best known forms of muscular dystrophy. The incidence in different countries varies from 130 to 390 per million male live births. Becker variety may be considered a mild form of Duchenne dystrophy, with an incidence 10 times lower. A sex linked recessive inheritance is involved in both forms, the affected gene is placed at locus X21. The incidence of both forms in Chile is similar to that reported worldwide, and has been increasing since 1950. Increased CK and LDH levels are confirmed in patients, and overall, they are also higher in female carriers. However only 26% of carriers have increased CK levels and 21% increased LDH levels, compared to normal subjects. Electromyograms show myopathic characteristics in all carrier women. The scope of a prospective clinical, genetic and epidemiologic study currently underway is discussed.
authors.affiliation: Instituto de Rehabilitación Infantil (IRI), Sociedad Pro-Ayuda al Niño Lisiado, Santiago de Chile.
authors.forename: J
authors.initials: J
authors.lastname: Holmgren
authors.forename: J
authors.initials: J
authors.lastname: Reyes
authors.forename: M
authors.initials: M
authors.lastname: Colombo
authors.forename: M A
authors.initials: MA
authors.lastname: Blanco
mesh_terms: D015415:Biomarkers; D002648:Child; D002677:Chile / Q000453:epidemiology; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D015994:Incidence; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008297:Male; D009136:Muscular Dystrophies / Q000097:blood / Q000145:classification / Q000453:epidemiology* / Q000503:physiopathology
chemical_list: D015415:Biomarkers; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase
vernacular_title: Distrofia muscular de Duchenne y Becker en Chile.