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New family with paroxysmal exercise-induced dystonia and epilepsy

โœ Scribed by Christoph Kamm; Petra Mayer; Manu Sharma; Gerhard Niemann; Thomas Gasser

Book ID
102505808
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
80 KB
Volume
22
Category
Article
ISSN
0885-3185

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โœฆ Synopsis

Abstract

To date, there are few reports of paroxysmal exerciseโ€induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomalโ€dominant inheritance, who exhibited typical exerciseโ€induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis. ยฉ 2007 Movement Disorder Society

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Familial paroxysmal exercise-induced dys
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We report eight new sporadic cases of paroxysmal dystonia induced by prolonged or sustained exercise and review an additional seven previously reported cases. The attacks in our patients lasted from a few minutes to up to 2 h, and patient age at onset ranged from 2 to 30 years. Four of the eight pat