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Praça Dom Feliciano 39 sala 1.401 - Centro Histórico - Porto Alegre - RS - Brasil
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rafael . neurocirurgia@gmail.com
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(51) 3085.2695
Dr. Rafael Oliveira
Especialista em Neurocirurgia e Cirurgia de Coluna Vertebral
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DISTROFIA MUSCULAR CINTURA MEMBROS
É uma herança autossômica dominante (DMCM-1) ou recessiva (DMCM-2) onde a fraqueza muscular tem inicio na musculatura pélvica ou na cintura umeral. Vale ressaltar que nesses casos não há alteração da distrofina e as proteínas musculares afetadas são, comumente, os sarcoglicanos, a calpaína, a disferlina e a caveolina. Os níveis de CK estão elevados e a biópsia muscular demonstra ausência de coloração para as proteínas específicas (sarcoglicanos, calpaína, disferlina e caveolina). Testes genéticos definem o diagnóstico e o tratamento é sintomático.
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