Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico

Overview

Journal J Neuromuscul Dis

Publisher Sage Publications

Specialty Neurology

Date 2016 Nov 18

PMID 27854217

Citations 8

Authors

Edwardo Ramos

Jose G Conde

Rafael Arias Berrios

Sherly Pardo

Omar Gomez

Manuel F Mas Rodriguez

Affiliations

Soon will be listed here.

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.

Citing Articles

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

Viggiano E, Picillo E, Passamano L, Onore M, Piluso G, Scutifero M Genes (Basel). 2023; 14(1).

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Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.

Salari N, Fatahi B, Valipour E, Kazeminia M, Fatahian R, Kiaei A J Orthop Surg Res. 2022; 17(1):96.

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Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.

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Theragnosis for Duchenne Muscular Dystrophy.

Luce L, Carcione M, Mazzanti C, Buonfiglio P, Dalamon V, Mesa L Front Pharmacol. 2021; 12:648390.

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Duchenne and Becker Muscular Dystrophies' Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences.

Zhang Y, Mann J, James K, McDermott S, Conway K, Paramsothy P Neuroepidemiology. 2021; 55(1):47-55.

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