Mitokondrial miyopati ile seyreden SANDO sendromunda rehabilitasyon

Year 2020, Volume: 13 Issue: 1, 215 - 218, 21.01.2020

Alev Atıgan , Füsun Şahin

https://doi.org/10.31362/patd.570009

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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