Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature
| Autor: | Jules Kehbila, Gottlieb Lobe Monekosso, Martin Hongieh Abanda, Cyril Jabea Ekabe, Benjamin Momo Kadia, Carlson–Babila Sama |
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| Jazyk: | angličtina |
| Předmět: |
Male
Rural Population 0301 basic medicine musculoskeletal diseases medicine.medical_specialty Weakness Pediatrics Biopsy Case Report Disease General Biochemistry Genetics and Molecular Biology Electrocardiography 03 medical and health sciences 0302 clinical medicine Physical medicine and rehabilitation Rural setting medicine Humans Cameroon Emery–Dreifuss muscular dystrophy Muscular dystrophy Child Muscle Skeletal Poverty Muscle contracture Medicine(all) Cardiac conduction abnormalities business.industry Biochemistry Genetics and Molecular Biology(all) General Medicine Prognosis medicine.disease Muscular Dystrophy Emery-Dreifuss Treatment Outcome 030104 developmental biology Emery-Dreifuss muscular dystrophy medicine.symptom business Limited resources 030217 neurology & neurosurgery |
| Zdroj: | BMC Research Notes |
| ISSN: | 1756-0500 |
| DOI: | 10.1186/s13104-016-2363-1 |
| Popis: | Background Emery-Dreifuss muscular dystrophy is a rare genetic muscular disease, presenting mainly with contractures, weakness and cardiac conduction abnormalities. Its clinical and laboratory similarities to other muscular dystrophies, and rarity poses diagnostic challenges, requiring a high index of suspicion in resource limited settings. Case presentation An 8 year old sub-Saharan male presented with rigidity and deformity of both elbows and ankles, and weakness of the upper limbs and lower limbs for duration of 4 months. This progressed to inability to stand and walk. There was no mental impairment. Physical examination was remarkable for contractures of the elbows and ankles, and wasting of muscles of the limbs and trunk, with a scapulohumeroperoneal pattern, and tachycardia. After laboratory investigations, a diagnosis of Emery-Dreifuss muscular dystrophy was suspected. Physiotherapy was started, wheel chair was prescribed, and referral to a specialist center was done for appropriate management. Conclusions Emery-Dreifuss muscular dystrophy is a rare disabling muscular disease which poses a diagnostic challenge. High index of suspicion is paramount for its early diagnoses to prevent orthopedic and cardiac complications. Prompt diagnosis and management is essential to improve on the prognosis of this disease. |
| Databáze: | OpenAIRE |
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