Abstract
Patients with mitochondrial disease often present with prominent neurologic symptoms. Common features include encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, and diabetes mellitus. Because skeletal muscle is the tissue with the highest metabolism in the body, with a staggering 50-fold increase in oxygen consumption from rest to maximal exercise, myopathic symptoms in mitochondrial disease are probably the most common presentation of the conditions. Myopathic symptoms can present as limb weakness, bulbar weakness with dysphagia, ptosis, external ophthalmoplegia, and exercise intolerance. Exercise intolerance is usually severe and, unlike most other neuromuscular conditions, typically does not relate to muscle weakness and wasting but to compromised generation of energy through oxidative phosphorylation. Thus, work capacity is often limited to a third of that in healthy persons,1,2 which prevents patients from participating in sport activities and performing activities of daily living such as climbing stairs, grocery shopping, jogging, and playing with children.
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