Table · dataset · 2026
<b>MUSCULAR DYSTROPHY IN AFRICA: A SCOPING REVIEW OF THE EPIDEMIOLOGICAL, CLINICAL AND GENETIC EVIDENCE AND THE NEED FOR DISEASE REGISTRIES</b>
Listed in figshare
<p dir="ltr">Muscular Dystrophy (MD) is a group of genetic disorders that are characterized by progressive muscle weakness and degeneration.
Description
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>
Links
Where it is published
- DOI doi.org/10.6084/m9.figshare.33854404.v1 ↗
DOI / persistent id · from figshare com
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from figshare com
Topics
- From keywords
- Astronomy & Astrophysics · Chemistry · Computer Science & AI · Earth & Environmental Science · Economics & Finance · Engineering · Humanities · Life Sciences · Medicine & Health · Ocean & Atmospheric Science · Social Science
- Inferred from text
- Disease 75% · Epidemiology 70%
Provenance · 1 source records, 18 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| figshare | oai:figshare.com:article/33854404 | 11 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · figshare com | connector:figshare_com@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].anzsrc:group:4202 | enrichment · figshare com | taxonomy-embedding@1.0.0 | title+keywords+description (70%) |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| description | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/description |
| license | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/rights |
| publication_date | source · figshare com | connector:figshare_com@1.0.0 | |
| title | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/title |