2026-10-14T07:23:56Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33854404 2026-09-16T14:16:55Z category_27073 item_type_3 month_year_09_2026

<b>MUSCULAR DYSTROPHY IN AFRICA: A SCOPING REVIEW OF THE EPIDEMIOLOGICAL, CLINICAL AND GENETIC EVIDENCE AND THE NEED FOR DISEASE REGISTRIES</b> Joseph Yaria (24721294) Epidemiology not elsewhere classified Muscle dystrophy africa .</ p genetics </ b <p dir="ltr">Muscular Dystrophy (MD) is a group of genetic disorders that are characterized by progressive muscle weakness and degeneration. This overview highlights the various subtypes, their clinical manifestations, genetic profiles, and epidemiology, while spotlighting the limited data available in the African region despite its unique diversities. Although MD is a recognized condition, it's often underdiagnosed and not reported in African studies due to limited diagnostic capabilities, lack of a proper registry, poor genomics research infrastructure, and a lack of awareness of the condition. This review aims to provide an overview of the major MD subtypes, including Duchenne, Becker, Myotonic, Limb-Girdle, Facioscapulohumeral, and congenital muscular dystrophies, while highlighting the challenges encountered in resource-challenged settings. Given the unique ancestral, ethno-linguistic and genetic diversity on the African continent, our efforts offer a unique opportunity to bolster current understanding of the phenotypic and genetic landscape of muscular dystrophies - including founder/novel/structural/rare variants – which may help advance future molecular characterization/functional studies and discovery of new drug targets.</p> 2026-09-16T14:16:55Z Dataset Dataset 10.6084/m9.figshare.33854404.v1 https://figshare.com/articles/dataset/_b_MUSCULAR_DYSTROPHY_IN_AFRICA_A_SCOPING_REVIEW_OF_THE_EPIDEMIOLOGICAL_CLINICAL_AND_GENETIC_EVIDENCE_AND_THE_NEED_FOR_DISEASE_REGISTRIES_b_/33854404 CC BY 4.0