title: Familial paroxysmal dystonic choreoathetosis revisited.
abstract: A case of familial paroxysmal dystonic choreoathetosis (PDC) documented by video/EEG monitoring is described. The father of the proband is affected by exertional cramping but not PDC, lending support to the previous hypothesis that exertional cramping may represent a "forme fruste" or the incomplete expression of PDC. Other family members affected by PDC are women, with exercise-induced cramping alone found in two men. Two of the women report prolonged exertion as a precipitant of lengthy spells consistent with typical PDC rather than the previously described "intermediate," exercise-induced form of PDC. Exertional cramping in families affected by PDC may represent the variable expression of the "dystonia gene" in male members. Conversely, exercise-induced PDC, both of the intermediate and longer form described here, may have a predilection to manifest in women.
authors.affiliation: Department of Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.
authors.forename: D T
authors.initials: DT
authors.lastname: Schloesser
authors.forename: T N
authors.initials: TN
authors.lastname: Ward
authors.forename: P D
authors.initials: PD
authors.lastname: Williamson
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001264:Athetosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002540:Cerebral Cortex / Q000503:physiopathology; D002819:Chorea / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D015444:Exercise / Q000502:physiology; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D008991:Monitoring, Physiologic; D009460:Neurologic Examination; D010375:Pedigree; D014741:Video Recording