Paroxysmal dyskinesias.

Shyamal H. Mehta, MD, PhD Movement Disorders Program, Department of Neurology, 1429 Harper Street, HF-1121, Augusta, GA 30912, USA. .
Current Treatment Options in Neurology (Impact Factor: 2.18). 06/2009; 11(3):170-8. DOI: 10.1007/s11940-009-0020-x
Source: PubMed

ABSTRACT Paroxysmal dyskinesias are a rare group of movement disorders affecting both adults and children. Based on the events that precipitate the abnormal movements, they are subdivided into paroxysmal kinesigenic dyskinesia (PKD), precipitated by sudden voluntary movements; paroxysmal nonkinesigenic dyskinesia (PNKD), which occurs at rest; paroxysmal exertion-induced dyskinesia (PED), occurring after prolonged exercise; and paroxysmal hypnogenic dyskinesia (PHD), which occurs in sleep. Paroxysmal dyskinesias can be sporadic, familial (autosomal dominant inheritance), or secondary to other disorders. Recent genetic discoveries may aid us in elucidating the pathophysiology of these disorders. PKD has been linked to the pericentromeric region of chromosome 16, PNKD is associated with mutations in the myofibrillogenesis regulator 1 (MR-1) gene on the long arm of chromosome 2 (2q32-36 locus), and PED is associated with mutations in the glucose transporter gene, GLUT1, responsible for glucose transport across the blood-brain barrier. Lifestyle modification to avoid precipitating factors is important in the management of paroxysmal dyskinesias. Medical therapies have not been examined in controlled trials. Nevertheless, anticonvulsants have been found to be extremely effective in treating PKD and are sometimes useful in other types, suggesting that these disorders may indeed represent forms of channelopathies. Drugs such as acetazolamide, anticholinergics, levodopa, and tetrabenazine have been inconsistently successful. In rare cases with medically refractory symptoms, deep brain stimulation has also been employed. Development of successful treatments for the different paroxysmal dyskinesias rests on elucidating the pathophysiology and targeting therapy to treat the underlying perturbation.

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    ABSTRACT: We report a rare case of familial paroxysmal kinesigenic dyskinesia. A 42-year-old woman and her 13-year-old daughter both presented with episodic curling of their hand and arm. These events were triggered by sudden movements and would last several seconds. Both patients' symptoms were unilateral and their physical and neurological examinations were normal. Treatment with carbamazepine improved their symptoms. Although an uncommon movement disorder it is important to recognize the clinical presentation of paroxysmal kinesigenic dyskinesia as most patients respond very well to medical treatment.
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