Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA
Identifieur interne : 005B54 ( Main/Merge ); précédent : 005B53; suivant : 005B55Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA
Auteurs : Ying Peng [États-Unis] ; Roger Crumley [États-Unis] ; John M. Ringman [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-06.
English descriptors
- KwdEn :
- DNA, Mitochondrial (metabolism), Epilepsies, Myoclonic (complications), Female, Humans, MERRF, Middle Aged, Mitochondrial Diseases (complications), Mitochondrial Diseases (genetics), Mutation, Myoclonus (complications), Pedigree, Statistics, Nonparametric, Voice Disorders (genetics), Voice Disorders (metabolism), botulinum toxin, coenzyme Q10, dystonia, larynx, mitochondria, mitochondrial diseases, mitochondrial genes, myoclonic epilepsy, myoclonus, myopathy, ragged red fibers, spasmodic dysphonia, speech, valproic acid.
- MESH :
- chemical , metabolism : DNA, Mitochondrial.
- complications : Epilepsies, Myoclonic, Mitochondrial Diseases, Myoclonus.
- genetics : Mitochondrial Diseases, Voice Disorders.
- metabolism : Voice Disorders.
- Female, Humans, Middle Aged, Mutation, Pedigree, Statistics, Nonparametric.
Abstract
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
Url:
DOI: 10.1002/mds.10428
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<front><div type="abstract" xml:lang="en">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 tRNA(Lys) gene). This patient also had spasmodic dysphonia that was responsive to treatment with intralaryngeal botulinum toxin.</div>
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