Duchenne Muscular Dystrophy: case report
Introduction: Duchenne muscular dystrophy is a hereditaryprogressive neuromuscular disease more common in the first twodecades of life and&...
| Autores: | , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2011 |
| País: | Brasil |
| Institución: | Faculdade de Medicina de Campos (FMC) |
| Repositorio: | Revista Científica da Faculdade de Medicina de Campos |
| Idioma: | portugués |
| OAI Identifier: | oai:ojs.www.fmc.br:article/100 |
| Acceso en línea: | https://www.fmc.br/ojs/index.php/RCFMC/article/view/100 |
| Access Level: | acceso abierto |
| Palabra clave: | Distrofia muscular congênita Distrofia muscular de Duchenne diagnóstico Congenital Muscular Dystrophy Duchenne Muscular Dystrophy Diagnosis |
| Sumario: | Introduction: Duchenne muscular dystrophy is a hereditaryprogressive neuromuscular disease more common in the first twodecades of life and clinical manifestations are usually seen in thesecond year of life. It is an X-linked disease that affects mostly boysattending with muscular hypotonia and early muscle weakness.Diagnosis is made by molecular biology and measurement ofCreatinoquinase and muscle biopsy and they should be done asearly as possible to allow the use of therapies that improve thequality of life.Objectives: To report a case of Duchenne muscular dystrophyand discuss clinical and diagnostic evaluation.Methods: Review of medical records and literature.Case report: Male patient, 11 year-old, born to non-consanguineousparents, with a negative family history for the disease. Since 18months he had frequent falls and walking at toes´ tips. With 5 yearsold it was observed difficulty to stand up and to use stairs. Due to theforward projection of the body he went to an Orthopedist and laterevaluations led to the suspicious of Duchenne Muscular Dystrophy.Physical examination showed hypertrophy of calves and GowersSign. Laboratory tests showed: Creatine kinase-total 6,334U/l(reference values= 26 to 189U/l); Lactate dehydrogenase of 2063U/l; Electroneuromyography showed a pattern consistent with muscleinjury.Conclusions: Despite being a known disease prognosis is lessinfluenced by the use of therapies, early diagnosis allows theimplementation of techniques and medications that improve the qualityof life. |
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