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Paroxysmal nonkinesigenic dyskinesia 1(PNKD1)

MedGen UID:
1631383
Concept ID:
C4551506
Disease or Syndrome
Synonyms: Dystonia 8; Familial paroxysmal choreoathetosis; Familial Paroxysmal Nonkinesigenic Dyskinesia; Mount-Reback syndrome; Nonkinesigenic choreoathetosis; Paroxysmal dystonic choreoathetosis; PNKD1; PxMD-PNKD
 
Gene (location): PNKD (2q35)
 
Monarch Initiative: MONDO:0700089
OMIM®: 118800

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

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Paroxysmal dystonia
MedGen UID:
97951
Concept ID:
C0393588
Sign or Symptom
A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
Myokymia
MedGen UID:
146882
Concept ID:
C0684219
Sign or Symptom
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Paroxysmal choreoathetosis
MedGen UID:
343687
Concept ID:
C1851936
Disease or Syndrome
Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
Facial grimacing
MedGen UID:
65891
Concept ID:
C0234853
Finding
Facial grimacing is characterized by a distorted, distressed look. The brow is more wrinkled, as is the area around the mouth. Eyes may be squeezed shut.

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

Shi M, Zhang H, Ma L, Wang X, Sun D, Feng Z
Front Immunol 2024;15:1352454. Epub 2024 Mar 6 doi: 10.3389/fimmu.2024.1352454. PMID: 38515748Free PMC Article
Li Y, Arai S, Kato K, Iwabuchi S, Iwabuchi N, Muto N, Motobayashi H, Ebihara S, Tanaka M, Hashimoto S
Nutrients 2023 Dec 21;16(1) doi: 10.3390/nu16010042. PMID: 38201872Free PMC Article
Lowrie M, Garosi L
Vet J 2017 Feb;220:65-71. Epub 2017 Jan 3 doi: 10.1016/j.tvjl.2016.12.017. PMID: 28190498
Waln O, Jankovic J
Neurol Clin 2015 Feb;33(1):137-52. doi: 10.1016/j.ncl.2014.09.014. PMID: 25432727
Sohn YH, Lee PH
Handb Clin Neurol 2011;100:367-73. doi: 10.1016/B978-0-444-52014-2.00028-8. PMID: 21496595

Diagnosis

Meredith AL
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
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
Wang J, Zhao W, Liu H, He H, Shao R
J Drug Target 2018 Sep;26(8):643-648. Epub 2017 Nov 15 doi: 10.1080/1061186X.2017.1401077. PMID: 29103325
Waln O, Jankovic J
Neurol Clin 2015 Feb;33(1):137-52. doi: 10.1016/j.ncl.2014.09.014. PMID: 25432727

Therapy

Li Y, Arai S, Kato K, Iwabuchi S, Iwabuchi N, Muto N, Motobayashi H, Ebihara S, Tanaka M, Hashimoto S
Nutrients 2023 Dec 21;16(1) doi: 10.3390/nu16010042. PMID: 38201872Free PMC Article
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
Yeh TH, Lin JJ, Lai SC, Wu-Chou YH, Chen AC, Yueh KC, Chen RS, Lu CS
J Neurol Sci 2012 Dec 15;323(1-2):80-4. Epub 2012 Sep 8 doi: 10.1016/j.jns.2012.08.015. PMID: 22967746
Alemdar M, Iseri P, Selekler M, Komsuoğlu SS
Clin Neuropharmacol 2007 Jul-Aug;30(4):241-4. doi: 10.1097/wnf.0b013e31803b9415. PMID: 17762321
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

Prognosis

Shi M, Zhang H, Ma L, Wang X, Sun D, Feng Z
Front Immunol 2024;15:1352454. Epub 2024 Mar 6 doi: 10.3389/fimmu.2024.1352454. PMID: 38515748Free 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
Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X
BMC Neurol 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209. PMID: 24370076Free 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

Clinical prediction guides

Shi M, Zhang H, Ma L, Wang X, Sun D, Feng Z
Front Immunol 2024;15:1352454. Epub 2024 Mar 6 doi: 10.3389/fimmu.2024.1352454. PMID: 38515748Free PMC Article
Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X
BMC Neurol 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209. PMID: 24370076Free 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
Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM
Neurology 2012 Nov 20;79(21):2104-8. Epub 2012 Oct 17 doi: 10.1212/WNL.0b013e3182752c6c. PMID: 23077018Free PMC Article
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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