Chronic pain as a neglected core symptom in mitochondrial diseases

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Pain has not before been included as a red flag in core symptoms for mitochondrial diseases. This study compared the pain of MD (mito disease) patients to those with chronic back pain: Mitochondrial diseases (MD) affect about 1 in 5,000 and are characterized by dysfunctional structure or function of mitochondria, caused by nuclear or mitochondrial DNA mutations.1 MD are clinically heterogeneous with core symptoms including muscular fatigue, exercise intolerance, sensorineural deafness, cerebellar ataxia, peripheral neuropathy, dementia, seizures, renal and hepatic impairment, and cardiomyopathy. Pain has not been included in the core symptoms despite occasional reports that pain also affects patients with MD.2,3 Instigated by patient reports of significant pain, we sought to determine whether chronic pain is a problem in MD. To illustrate the characteristics and the burden of pain, we compared patients with MD with patients with primary chronic back pain (CBP), who are clinically well characterized.