Affiliations: [a] Department of Physical Medicine, Rehabilitation & Sport Medicine, University of Puerto Rico School of Medicine, San Juan, Puerto Rico | [b] Biomedical Sciences Graduate Program, University of Puerto Rico School of Medicine, San Juan, Puerto Rico | [c] Department of Biochemistry & Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico
Correspondence to: Edwardo Ramos, M.D., Physical Medicine, Rehabilitation & Sports Medicine Department; UPR-School of Medicine, PO Box 365067, San Juan PR 00936-5067, PR. Tel.: +1 787 758 2525/Ext. 1767, 1704; Fax: +1 787 754 1478; E-mail: firstname.lastname@example.org.
Abstract: Background: 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. Objective: To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico. Methods: 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. Results: 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. Conclusions: 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.