title: Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.
abstract: Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse.
  
  
  
  To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico.
  
  
  
  We collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients. Patients selected for data analysis matched "definite", "probable" and "possible" case definitions as established by MD STARnet.
  
  
  
  A total of 141 patients matched the inclusion criteria, with 64.5% and 35.5% being categorized into DMD and BMD, respectively. DMD and BMD prevalence in Puerto Rico was estimated at 5.18 and 2.84 per 100,000 males, respectively. Deletion was the most common form of mutation (66.7%) in the dystrophin gene, with exons in segment 45 to 47 being the most frequently affected.
  
  
  
  This is the first report of the prevalence and genetic profile characteristics of DMD and BMD in Puerto Rico. Prevalence of DMD was similar to that reported worldwide, while prevalence of BMD was higher. Genetic profile was consistent with that reported in the literature.
authors.affiliation: Department of Physical Medicine, Rehabilitation & Sport Medicine, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
authors.forename: Edwardo
authors.initials: E
authors.lastname: Ramos
authors.affiliation: Biomedical Sciences Graduate Program, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
authors.forename: José G
authors.initials: JG
authors.lastname: Conde
authors.affiliation: Department of Physical Medicine, Rehabilitation & Sport Medicine, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
authors.forename: Rafael Arias
authors.initials: RA
authors.lastname: Berrios
authors.affiliation: Department of Biochemistry & Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
authors.forename: Sherly
authors.initials: S
authors.lastname: Pardo
authors.affiliation: Department of Physical Medicine, Rehabilitation & Sport Medicine, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
authors.forename: Omar
authors.initials: O
authors.lastname: Gómez
authors.affiliation: Department of Physical Medicine, Rehabilitation & Sport Medicine, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
authors.forename: Manuel F
authors.initials: MF
authors.lastname: Mas Rodríguez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology* / Q000235:genetics; D009154:Mutation; D015995:Prevalence; D011647:Puerto Rico / Q000453:epidemiology; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: C484258:DMD protein, human; D016189:Dystrophin
keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; Puerto Rico; dystrophinopathy; muscular dystrophy