A family is presented with paroxysmal dystonic choreoathetosis transmitted as a dominant trait over five generations. The family is unusual in the marked responsiveness of the episodes to short periods of sleep in several members, in the very variable age of onset, and in the association with prominent myokymia in some cases. These overlap features suggest a link between paroxysmal dystonic cho...

A 30-year-old man with mild learning disability (IQ:72) and cerebral palsy with mild generalized choreoathetosis was referred with paroxysmal motor disorder and episodic depressive mood disorder. Aged 11 months, he had developed episodes of alternating flaccid hemiparesis followed by episodes when he was unable to move or talk but remaining conscious lasting from several minutes to longer. Epis...

To cite: Noda K, Hattori N, Okuma Y. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013203353 DESCRIPTION A 49-year-old man developed right hemiparesis and choreoathetosis involving his right upper and lower extremities. His choreoathetosis worsened with attempts at action or posture. Neurological examination showed mild dysarthria, and right upper motor neuron ...

Glutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy. Laboratory evaluation usually demonstrates increased urinary excretion of gluataric acid and 3-hydroxyglu...

A 59-year-old man presented with refractory anemia, choreoathetosis in the left upper extremity, an unsteady gait and cognitive dysfunction. The laboratory findings showed a marked decrease in ceruloplasmin. Magnetic resonance images revealed iron deposition in the brain and visceral organs. Iron accumulation was also observed in hepatocytes. Genetic analyses of the ceruloplasmin gene revealed ...

Choreoathetosis (CHO) in pediatric patients following cardiopulmonary bypass (CPB) has no known etiology, although several causal factors have been suggested. The infrequent occurrence in any one institution and the inability to perform prospective studies have made the etiology of CHO difficult to discover. This paper discusses a retrospective analysis of eleven cases of CHO following CPB. To ...