ArticleMolecular genetics & genomic medicine2020
DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 11 citations in OpenAlex.
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.European journal of medical research · 2024Article
- Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.Frontiers in neuroscience · 2022Article
- A case for genomic medicine in South African paediatric patients with neuromuscular disease.Frontiers in pediatrics · 2022Article
- DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.Molecular genetics & genomic medicine · 2020Article
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5 authors at 3 institutions in 2 countries.
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Abstract
backgroundMost of the previous studies on Duchenne Muscular Dystrophy (DMD) were conducted in Caucasian, Asian, and Arab populations. Therefore, little is known about the features of this disease in Africans. In this study, we aimed to determine the clinical characteristics of DMD, and the common mutations associated with this condition in a group of Cameroonian patients.
methodsWe recruited DMD patients and performed a general physical examination on each of them. Multiplex ligand-dependant probe amplification was carried out to investigate exon deletions and duplications in the DMD gene (OMIM: 300377) of patients and their mothers.
resultsA total of 17 male patients from 14 families were recruited, aged 14 ± 5.1 (8-23) years. The mean age at onset of symptoms was 4.6 ± 1.5 years, and the mean age at diagnosis was 12.1 ± 5.2 years. Proximal muscle weakness was noted in all patients and calf hypertrophy in the large majority of them (88.2%; 15/17). Flexion contractures were particularly frequent on the ankle (85.7%; 12/14). Wasting of shoulder girdle and thigh muscles was present in 50% (6/12) and 46.2% (6/13) of patients, respectively. No patient presented with hearing impairment. Deletions in DMD gene (OMIM: 300377) occurred in 45.5% of patients (5/11), while duplications were observed in 27.3% (3/11). Both mutation types were clustered between exons 45 and 50, and the proportion of de novo mutation was estimated at 18.2% (2/11).
conclusionDespite the first symptoms of DMD occurring in infancy, the diagnosis is frequently made later in adolescence, indicating an underestimation of the number of cases of DMD in Cameroon. Future screening of deletions and duplications in patients from Cameroon should focus on the distal part of the gene.
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