Paroxysmal dyskinesias

Shyamal H. Mehta, John Christopher Morgan, Kapil Dev Sethi

Research output: Contribution to journalReview article

19 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)170-178
Number of pages9
JournalCurrent Treatment Options in Neurology
Volume11
Issue number3
DOIs
StatePublished - Apr 20 2009

Fingerprint

Chorea
Tetrabenazine
Channelopathies
Chromosomes, Human, Pair 16
Precipitating Factors
Mutation
Acetazolamide
Deep Brain Stimulation
Chromosomes, Human, Pair 2
Facilitative Glucose Transport Proteins
Muscle Development
Dyskinesias
Movement Disorders
Cholinergic Antagonists
Levodopa
Regulator Genes
Blood-Brain Barrier
Anticonvulsants
Life Style
Sleep

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Paroxysmal dyskinesias. / Mehta, Shyamal H.; Morgan, John Christopher; Sethi, Kapil Dev.

In: Current Treatment Options in Neurology, Vol. 11, No. 3, 20.04.2009, p. 170-178.

Research output: Contribution to journalReview article

Mehta, Shyamal H. ; Morgan, John Christopher ; Sethi, Kapil Dev. / Paroxysmal dyskinesias. In: Current Treatment Options in Neurology. 2009 ; Vol. 11, No. 3. pp. 170-178.
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