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Paroxysmal nonkinesigenic dyskinesia 2(PNKD2)

MedGen UID:
370188
Concept ID:
C1970149
Disease or Syndrome
Synonyms: DYSTONIA 20; PNKD2
 
Monarch Initiative: MONDO:0012629
OMIM®: 611147

Definition

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.

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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
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.

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

Recent clinical studies

Etiology

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
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
Ghezzi D, Canavese C, Kovacevic G, Zamurovic D, Barzaghi C, Giorgi C, Zorzi G, Zeviani M, Pinton P, Garavaglia B, Nardocci N
Eur J Paediatr Neurol 2015 Jan;19(1):64-8. Epub 2014 Oct 18 doi: 10.1016/j.ejpn.2014.10.003. PMID: 25453601
Sohn YH, Lee PH
Handb Clin Neurol 2011;100:367-73. doi: 10.1016/B978-0-444-52014-2.00028-8. PMID: 21496595
Loher TJ, Krauss JK, Burgunder JM, Taub E, Siegfried J
Neurology 2001 Jan 23;56(2):268-70. doi: 10.1212/wnl.56.2.268. PMID: 11160971

Diagnosis

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
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
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
Norlinah MI, Shahizon AM
Med J Malaysia 2008 Dec;63(5):410-2. PMID: 19803303

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
Szczałuba K, Jurek M, Szczepanik E, Friedman A, Milewski M, Bal J, Mazurczak T
Pediatr Neurol 2009 Aug;41(2):135-8. doi: 10.1016/j.pediatrneurol.2009.02.013. PMID: 19589464
Norlinah MI, Shahizon AM
Med J Malaysia 2008 Dec;63(5):410-2. PMID: 19803303
Mirsattari SM, Berry ME, Holden JK, Ni W, Nath A, Power C
Neurology 1999 Jan 1;52(1):109-14. doi: 10.1212/wnl.52.1.109. PMID: 9921856

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
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
Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH
Arch Neurol 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597. PMID: 15824259
Loher TJ, Krauss JK, Burgunder JM, Taub E, Siegfried J
Neurology 2001 Jan 23;56(2):268-70. doi: 10.1212/wnl.56.2.268. PMID: 11160971
Mirsattari SM, Berry ME, Holden JK, Ni W, Nath A, Power C
Neurology 1999 Jan 1;52(1):109-14. doi: 10.1212/wnl.52.1.109. PMID: 9921856

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
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
Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH
Arch Neurol 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597. PMID: 15824259
Mirsattari SM, Berry ME, Holden JK, Ni W, Nath A, Power C
Neurology 1999 Jan 1;52(1):109-14. doi: 10.1212/wnl.52.1.109. PMID: 9921856

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