ASPECTOS GENÉTICOS, FISIOLÓGICOS E CLÍNICOS DE UM PACIENTE COM DISTROFIA

The present work has as object a case report of Muscular Dystrophy of Duchenne (DMD) in a resident patient in the municipal district of DouradosMS. It was used as method the bibliographical research and interview with the sick child's mother. Patient masculine, it presented to the four years and ten months, convulsions. He needed internment. The physical exam demonstrated hypertrophy of the calves and maneuver or sign of Gowers. The exam laboratorial demonstrated Creatinoquinase-total (CK-total) with value of 22.700 μ/l (Values of Reference = 26 to 189 μ/l). There were still moderate increase of Transaminases and Aldolase, common in this case. Electromyography and the Molecular Analysis demonstrated compatible results with DMD. These discoveries were similar to the of the world literature, including a shady prognostic due to DMD to be a degenerative muscular disease progressive, taking the patient, from the limitation of the movements to the death.