Paroxysmal nonkinesigenic dyskinesia

Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis".[2] It is a rare hereditary disease that affects various muscular and nervous systems in the body, passing to roughly fifty percent of the offspring.

Paroxysmal Nonkinesigenic Dyskinesia
Other namesPNKD, Paroxysmal dystonic choreoathetosis, PDC, Mount-Reback syndrome[1], Nonkinesigenic choreoathetosis, Familial paroxysmal choreoathetosis, FPD1, DYT8
SpecialtyNeurology 

Signs and symptoms

The condition manifests itself as attacks lasting from a few minutes to several hours. Episodes only happen when the individual is awake, and they remain conscious throughout the attack. Symptoms are most severe in youth and lessen with age. Sufferers can have multiple attacks on a daily basis or may have periods of weeks or months between attacks. Symptoms experienced during attacks can vary and include dystonia, chorea, athetosis, ballismus, or a combination.[3]

Genetics

It has been mapped to chromosome 2q31-36.[4]

It has been associated with PNKD.[5]

Risk triggers

While not the same in all people, there are several common triggers that can precipitate an attack:[4][6]

Diagnosis

Treatment

Most pharmacological treatments work poorly, but the best treatment is a low dosage of clonazepam, a muscle relaxant. Patients may also benefit from other benzodiazepines, phenobarbital, and other anticonvulsants such as valproic acid.[7] Affected individuals have reported garlic to be effective for softening the attacks, but no studies have been done on this.[4]

gollark: A clear excuse.
gollark: Oops again.
gollark: Oh no.
gollark: You know, there was something like a 1/5 chance of heavpoot succeeding in his roll to destroy the sun, I think.
gollark: But, canonically, you could have an "electric car" powered by a magic field generator and some electricity.

References
  1. "Mount-Reback syndrome".
  2. Mount, L. A.; Reback, S. : Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch. Neurol. Psychiat. 44: 841-847, 1940.
  3. NCBI Bookshelf -- GeneReviews -- Familial Paroxysmal Nonkinesigenic Dyskinesia
  4. Archives of Neurology - Familial Paroxysmal Dystonic Choreoathetosis
  5. Online Mendelian Inheritance in Man (OMIM): 118800
  6. WrongDiagnosis.com - Mount-Reback syndrome
  7. Dyskinesias (Paroxysmal) - Treatment
Classification
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