- Paroxysmal nonkinesigenic dyskinesia
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Paroxysmal Nonkinesigenic Dyskinesia Classification and external resources OMIM 118800 DiseasesDB 32382 Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis"[1]. It is a rare hereditary disease that affects various muscular and nervous systems in the body, passing to roughly fifty percent of the offspring.
Contents
Genetics
It has been mapped to chromosome 2q31-36[2].
It has been associated with PNKD.[3]
Alternate names
The condition can and has been referred to by a number of different names since it was first described, including the following:
- Paroxysmal nonkinesigenic dyskinesia
- PNKD
- Paroxysmal dystonic choreoathetosis
- PDC
- Mount-Reback syndrome (in honor of Lester Adrian Mount and S. Reback; the two doctors that classified it)[4]
- Nonkinesigenic choreoathetosis
- Familial paroxysmal choreoathetosis
- Choreoathetosis familial paroxysmal
- FPD1
- DYT8
- Dystonia 8
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.[5]
Triggers
While not the same in all people, there are several common triggers that can precipitate an attack:[2][6]
- Moderate to high consumption of stimulants, such as alcohol, caffeine, or nicotine.
- Low amounts of energy due to hunger, lack of sleep, illness, or physical fatigue.
- Moderate to high presence of stress.
- Menstruation and ovulation.
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.[2]
References
- ^ Mount, L. A.; Reback, S. : Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch. Neurol. Psychiat. 44: 841-847, 1940.
- ^ a b c Archives of Neurology - Familial Paroxysmal Dystonic Choreoathetosis
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 118800
- ^ http://www.whonamedit.com/synd.cfm/950.html
- ^ NCBI Bookshelf -- GeneReviews -- Familial Paroxysmal Nonkinesigenic Dyskinesia
- ^ WrongDiagnosis.com - Mount-Reback syndrome
- ^ Dyskinesias (Paroxysmal) - Treatment
Categories:- Genetic disorders
- Neurological disorders
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