First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features()
| Autor: | William Howlett, H.A. van Duyvenvoorde, A.A. Tieleman, O.J. Igogo, Marieke C. J. Dekker, Ben C.J. Hamel |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Pediatrics medicine.medical_specialty Weakness Other Research Donders Center for Medical Neuroscience [Radboudumc 0] Global neurology Muscle disorder Medical care Tanzania 03 medical and health sciences 0302 clinical medicine Genotype parasitic diseases Medicine Humans Muscular dystrophy Genetics (clinical) biology business.industry Middle Aged Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] biology.organism_classification medicine.disease Pedigree Muscular Dystrophy Duchenne 030104 developmental biology Neurology Becker muscular dystrophy Pediatrics Perinatology and Child Health Africa Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders, 29, 317-320 Neuromuscular Disorders, 29, 4, pp. 317-320 Neuromuscular Disorders, 29(4), 317-320. PERGAMON-ELSEVIER SCIENCE LTD |
| ISSN: | 0960-8966 |
| Popis: | In African neurological practice, muscle disorders are either underdiagnosed or underrepresented. This may in part be due to the large burden of other more common neurological disorders. In this report we describe the first Tanzanian patient with genetically confirmed Becker muscular dystrophy. His phenotype and genotype were compatible with elsewhere in the world. Remarkably, this patient reported his progressive weakness of the legs with difficulty in walking only after a fall. We demonstrate that muscular dystrophies occur in sub-Saharan Africa. Neurologists must however be aware that patients are likely to delay seeking medical care for muscle disorders. (C) 2019 Elsevier B.V. All rights reserved. |
| Databáze: | OpenAIRE |
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