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Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA


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Dystonia has been described in various diseases affecting mitochondrial function but spasmodic dysphonia, a form of focal dystonia, has not. We present a patient with action myoclonus affecting the hands and arms who carried the most common mutation in mitochondrial DNA causing the myoclonic epilepsy and ragged red fibers (MERRF) syndrome (the A→G substitution at nucleotide 8344 in the tRNALys gene). This patient also had spasmodic dysphonia that was responsive to treatment with intralaryngeal botulinum toxin. © 2003 Movement Disorder Society

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