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.
- SourceAvailable from: Waqas Khan[Show abstract] [Hide abstract]
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.Acta neurologica Belgica 06/2010; 110(2):201-2. · 0.60 Impact Factor
- Movement Disorders 07/2010; 25(9):1305-6. DOI:10.1002/mds.23077 · 5.63 Impact Factor
Article: Treatment of paroxysmal dyskinesias[Show abstract] [Hide abstract]
ABSTRACT: Paroxysmal dyskinesias represent a heterogeneous group of rare diseases sharing characteristics with two important groups of neurological disorders, the movement disorders and the epilepsies. Their common hallmark is the paroxysmal occurrence of dyskinesias including athetosis, ballism, chorea and dystonia. During the last two decades, various genetic abnormalities have been identified thereby providing insight into the underlying pathophysiology and offering therapeutic opportunities for many of these conditions. We summarize the diagnostic criteria of idiopathic and symptomatic paroxysmal dyskinesias and describe their therapeutic options. For the preparation of this review article, an extensive literature search was undertaken using PubMed. This review provides a practical guide to the diagnosis and treatment of paroxysmal dyskinesias. The mainstay of therapy is carbamazepine for paroxysmal kinesigenic dyskinesias and clonazepam for the nonkinesigenic dyskinesias. In symptomatic paroxysmal dyskinesias, the treatment of the underlying disease will provide best results. The ketogenic diet for patients with paroxysmal exertion-induced dyskinesias is a promising new therapeutic strategy and may not only prevent attacks but also lead to improvement of developmental delay in affected children.Expert Opinion on Pharmacotherapy 01/2011; 12(1):63-72. DOI:10.1517/14656566.2010.513971 · 3.09 Impact Factor