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Mitochondrial Myopathy With Atypical Subacute Presentation, Oren Cohen, Israel Steiner, Zohar Argov, Avi Ashkenazi, Judith Diment, Ann Saada, Yaron River

Department of Neurology Faculty Papers

Mitochondrial myopathies usually have a chronic course of progressive limb weakness, exercise induced myalgia without muscle tenderness, and normal or only mildly raised serum creatine kinase. Acute or subacute presentation or exacerbation of nervous system signs is common in Leber's hereditary optic neuropathy (LHON) and in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), but has not been reported for muscle in mitochondrial diseases. We describe a patient who presented with rapidly progressive, subacute muscle weakness due to a mitochondrial disorder.