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Exercise-induced Dystonia (exercise-induced + dystonia)
Kinds of Exercise-induced Dystonia Selected AbstractsExercise-induced dystonia as a preceding symptom of familial Parkinson's disease,MOVEMENT DISORDERS, Issue 2 2004Michiko K. Bruno MD Abstract Paroxysmal exercise-induced dystonia can occur with Parkinson's disease (PD), and in rare cases, this can also be the presenting symptom. We report on 2 second cousins (no known consanguinity) who presented with paroxysmal exercise-induced dystonia who later developed clinical features of PD. Although autosomal recessive inheritance was suggested, and the dystonic features further suggest parkin as a possible cause, ssequencing for parkin mutations was negative and this family may represent a genetic variant of PD. Further genotype,phenotype studies in this and similar families may give clues to pre-symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future. © 2003 Movement Disorder Society [source] Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiencyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2010RUSSELL C DALE Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms of paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother and maternal grandfather) with autosomal dominant inheritance of paroxysmal exercise-induced dystonia. The dystonia began in childhood and was only ever induced after many minutes of exercise, and was never present at rest, or on initiation of movements. In addition, family members suffered restless legs syndrome (RLS), depression, and adult-onset Parkinsonism. The index case had low cerebrospinal fluid neurotransmitters and pterins. The PED and RLS stopped on initiation of l -Dopa therapy. Both live family members were found to have a nonsense mutation (p.E84X) in exon 1 of the GTP-cyclohydrolase 1 (GCH-1) gene. We propose that GCH-1 mutations should be considered a genetic cause of familial PED, especially if additional clinical features of monoaminergic deficiency are present in affected individuals. [source] Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease,MOVEMENT DISORDERS, Issue 2 2004Michiko K. Bruno MD Abstract Paroxysmal exercise-induced dystonia can occur with Parkinson's disease (PD), and in rare cases, this can also be the presenting symptom. We report on 2 second cousins (no known consanguinity) who presented with paroxysmal exercise-induced dystonia who later developed clinical features of PD. Although autosomal recessive inheritance was suggested, and the dystonic features further suggest parkin as a possible cause, ssequencing for parkin mutations was negative and this family may represent a genetic variant of PD. Further genotype,phenotype studies in this and similar families may give clues to pre-symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future. © 2003 Movement Disorder Society [source] Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's diseaseMOVEMENT DISORDERS, Issue 12 2003Maria Bozi MD Abstract Paroxysmal exercise-induced dystonia (PED) is a rare, typically idiopathic familial condition, although sporadic and secondary cases have been reported. We present 2 cases where PED was the presenting feature of young-onset idiopathic Parkinson's disease (PD), preceding the onset of parkinsonian symptoms by 1.5 and 5 years, respectively. Initially, the dystonic symptoms occurred after prolonged exercise and were unilateral, affecting the foot in both patients. Over time, symptoms occurred with minimal exercise. We conclude that PED can rarely be the first and only feature of PD. © 2003 Movement Disorder Society [source] Further case of paroxysmal exercise-induced dystonia and some insights into pathogenesis,MOVEMENT DISORDERS, Issue 6 2002Michael H. Barnett MD Abstract Cerebrospinal fluid (CSF) analysis of pterin and monamine metabolites was performed before and after an attack in a patient with paroxysmal exercise-induced dystonia. A twofold increase in CSF homovanillic acid and 5-hydroxyindoleacetic acid after an attack was measured. This finding lends support to the hypothesis that increased dopaminergic transmission contributes to the clinical features of the hyperkinetic movement disorders. © 2002 Movement Disorder Society [source] |