Mitokondrial miyopati ile seyreden SANDO sendromunda rehabilitasyon

Abstract

 

Mitokondrial miyopatiler, mitokondrial DNA (mtDNA) mutasyonu sonucu oksidatif fosforilasyonun bozulduğu ve dolayısıyla multisistemik semptom ve bulguların görüldüğü hastalık grubudur. Bu hastaların rehabilitasyonunda uygulanması gereken egzersiz şiddeti yeni çalışılan bir konu olup halen netliğe kavuşturulamamıştır. Bu olgu sunumunda yürüme güçlüğü ve kas güçsüzlüğü ile kliniğimize başvuran, mitekondrial miyopatilerin bir grubu olan SANDO sendromu tanısı mevcut olan bir bayan hasta eşliğinde mitokondrial miyopatilerde rehabilitasyon özellikleri tartışılacaktır. 

Keywords

• SANDO sendromu,mitokondrial miyopati,egzersiz

Rehabilitation of SANDO syndrome with mitochondrial myopathy

Abstract

 

Mitochondrial myopathies are a group of diseases where oxidative phosphorylation is impaired as a result of mitochondrial DNA (mtDNA) mutation and thus multisystemic symptoms and findings are seen. The exercise intensity of these patients can not be clarified. In this case report, the rehabilitation features of mitochondrial myopathies will be discussed by presented a female patient who has walking difficulty and muscle weakness with the diagnosis of SANDO syndrome which is a group of mitochondrial myopathies.

Keywords

• SANDO syndrome,mitochondrial myopathies,exercise

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