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Paroxysmal nonkinesigenic dyskinesia

MedGen UID:
401504
Concept ID:
C1869117
Disease or Syndrome
Synonym: Paroxysmal non-kinesigenic dyskinesia
SNOMED CT: Mount-Reback syndrome (609218006); Paroxysmal dystonic choreoathetosis (609218006); Paroxysmal nonkinesigenic dyskinesia (609218006); Familial paroxysmal choreoathetosis (609218006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related gene: PNKD
 
Monarch Initiative: MONDO:0700088
Orphanet: ORPHA98810

Disease characteristics

Excerpted from the GeneReview: Familial Paroxysmal Nonkinesigenic Dyskinesia
Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Attacks involve dystonic posturing with choreic and ballistic movements, may be accompanied by a preceding aura, occur while the individual is awake, and are not associated with seizures. Attacks last minutes to hours and rarely occur more than once per day. Attack frequency, duration, severity, and combinations of symptoms vary within and among families. Age of onset is typically in childhood or early teens but can be as late as age 50 years. [from GeneReviews]
Authors:
Roberto Erro   view full author information

Additional descriptions

From OMIM
Paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is an autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. Attacks may be precipitated by stress, fatigue, caffeine, alcohol, ovulation, or menstruation, and may last minutes to hours (summary by Chen et al., 2005, Ghezzi et al., 2009). Genetic Heterogeneity of Paroxysmal Nonkinesigenic Dyskinesia See also PNKD2 (611147), mapped to chromosome 2q31, and PNKD3 (609446), caused by mutation in the KCNMA1 gene (600150) on chromosome 10q22.  http://www.omim.org/entry/118800
From MedlinePlus Genetics
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.

People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of abnormal movement that are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement or develop without a known cause. Episodes are not induced by exercise or sudden movement and do not occur during sleep. An episode is characterized by irregular, jerking or shaking movements that range from mild to severe. In this disorder, the dyskinesia can include slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); and, rarely, flailing movements of the limbs (ballismus). The dyskinesia also affects muscles in the torso and face. The type of abnormal movement varies among affected individuals, even among affected members of the same family. Individuals with familial paroxysmal nonkinesigenic dyskinesia do not lose consciousness during an episode. Most people do not experience any neurological symptoms between episodes.

Individuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or their early teens. Episodes typically last 1 to 4 hours, and the frequency of episodes ranges from several per day to one per year. In some affected individuals, episodes occur less often with age.  https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Paroxysmal nonkinesigenic dyskinesia in Orphanet.

Professional guidelines

PubMed

Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT
Dev Med Child Neurol 2018 Jun;60(6):559-565. Epub 2018 Mar 30 doi: 10.1111/dmcn.13744. PMID: 29600549
Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptácek L
Neurology 2007 May 22;68(21):1782-9. doi: 10.1212/01.wnl.0000262029.91552.e0. PMID: 17515540

Recent clinical studies

Etiology

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Diagnosis

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Annu Rev Physiol 2024 Feb 12;86:277-300. Epub 2023 Oct 31 doi: 10.1146/annurev-physiol-030323-042845. PMID: 37906945
Erro R, Magrinelli F, Bhatia KP
Handb Clin Neurol 2023;196:347-365. doi: 10.1016/B978-0-323-98817-9.00033-8. PMID: 37620078
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Therapy

Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT
Dev Med Child Neurol 2018 Jun;60(6):559-565. Epub 2018 Mar 30 doi: 10.1111/dmcn.13744. PMID: 29600549
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Clin Neuropharmacol 2016 Jul-Aug;39(4):201-5. doi: 10.1097/WNF.0000000000000149. PMID: 27046658
Yeh TH, Lin JJ, Lai SC, Wu-Chou YH, Chen AC, Yueh KC, Chen RS, Lu CS
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Clin Neuropharmacol 2007 Jul-Aug;30(4):241-4. doi: 10.1097/wnf.0b013e31803b9415. PMID: 17762321
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Prognosis

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Chin Med J (Engl) 2016 May 5;129(9):1017-21. doi: 10.4103/0366-6999.180529. PMID: 27098784Free PMC Article
Heron SE, Dibbens LM
J Med Genet 2013 Mar;50(3):133-9. Epub 2013 Jan 23 doi: 10.1136/jmedgenet-2012-101406. PMID: 23343561
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Mirsattari SM, Berry ME, Holden JK, Ni W, Nath A, Power C
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Clinical prediction guides

Xie Z, Shen S, Huang K, Wang W, Liu Z, Zhang H, Lu M, Sun J, Hou J, Liu H, Guo H, Zhang X
J Med Virol 2023 Apr;95(4):e28749. doi: 10.1002/jmv.28749. PMID: 37185850
Tian M, Chen J, Li J, Pan H, Lei W, Shu X
BMC Pediatr 2022 Apr 25;22(1):222. doi: 10.1186/s12887-022-03246-w. PMID: 35468813Free PMC Article
Wang HX, Li HF, Liu GL, Wen XD, Wu ZY
Chin Med J (Engl) 2016 May 5;129(9):1017-21. doi: 10.4103/0366-6999.180529. PMID: 27098784Free PMC Article
Heron SE, Dibbens LM
J Med Genet 2013 Mar;50(3):133-9. Epub 2013 Jan 23 doi: 10.1136/jmedgenet-2012-101406. PMID: 23343561
Weber YG, Lerche H
Curr Neurol Neurosci Rep 2009 May;9(3):206-11. doi: 10.1007/s11910-009-0031-8. PMID: 19348709

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