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Episodic kinesigenic dyskinesia 2(EKD2; DYT19)

MedGen UID:
410022
Concept ID:
C1970238
Disease or Syndrome
Synonym: Dystonia 19
 
Monarch Initiative: MONDO:0012603
OMIM®: 611031

Definition

A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1. [from MONDO]

Clinical features

From HPO
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Involuntary movements
MedGen UID:
140884
Concept ID:
C0427086
Sign or Symptom
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Paroxysmal dyskinesia
MedGen UID:
156242
Concept ID:
C0752210
Disease or Syndrome
Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.

Professional guidelines

PubMed

Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q, Niu Q, Wang J, Wang Z, Yin Y, Tian J, Tian S, Bi H, Jiang H, Liu X, Lü Y, Sun M, Wu J, Xu E, Chen T, Chen T, Chen X, Li W, Li S, Li Q, Song X, Tang Y, Yang P, Yang Y, Zhang M, Zhang X, Zhang Y, Zhang R, Ouyang Y, Yu J, Hu Q, Ke Q, Yao Y, Zhao Z, Zhao X, Zhao G, Liang F, Cheng N, Han J, Peng R, Chen S, Tang B
Transl Neurodegener 2021 Feb 16;10(1):7. doi: 10.1186/s40035-021-00231-8. PMID: 33588936Free PMC Article
De Gusmao CM, Silveira-Moriyama L
Expert Rev Neurother 2019 Sep;19(9):807-822. Epub 2019 Aug 8 doi: 10.1080/14737175.2019.1648211. PMID: 31353980
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

Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q, Niu Q, Wang J, Wang Z, Yin Y, Tian J, Tian S, Bi H, Jiang H, Liu X, Lü Y, Sun M, Wu J, Xu E, Chen T, Chen T, Chen X, Li W, Li S, Li Q, Song X, Tang Y, Yang P, Yang Y, Zhang M, Zhang X, Zhang Y, Zhang R, Ouyang Y, Yu J, Hu Q, Ke Q, Yao Y, Zhao Z, Zhao X, Zhao G, Liang F, Cheng N, Han J, Peng R, Chen S, Tang B
Transl Neurodegener 2021 Feb 16;10(1):7. doi: 10.1186/s40035-021-00231-8. PMID: 33588936Free PMC Article
Tian WT, Huang XJ, Mao X, Liu Q, Liu XL, Zeng S, Guo XN, Shen JY, Xu YQ, Tang HD, Yin XM, Zhang M, Tang WG, Liu XR, Tang BS, Chen SD, Cao L
Mov Disord 2018 Mar;33(3):459-467. Epub 2018 Jan 22 doi: 10.1002/mds.27274. PMID: 29356177
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
Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292
Bhatia KP
Mov Disord 2011 May;26(6):1157-65. doi: 10.1002/mds.23765. PMID: 21626559

Diagnosis

Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q, Niu Q, Wang J, Wang Z, Yin Y, Tian J, Tian S, Bi H, Jiang H, Liu X, Lü Y, Sun M, Wu J, Xu E, Chen T, Chen T, Chen X, Li W, Li S, Li Q, Song X, Tang Y, Yang P, Yang Y, Zhang M, Zhang X, Zhang Y, Zhang R, Ouyang Y, Yu J, Hu Q, Ke Q, Yao Y, Zhao Z, Zhao X, Zhao G, Liang F, Cheng N, Han J, Peng R, Chen S, Tang B
Transl Neurodegener 2021 Feb 16;10(1):7. doi: 10.1186/s40035-021-00231-8. PMID: 33588936Free PMC Article
De Gusmao CM, Silveira-Moriyama L
Expert Rev Neurother 2019 Sep;19(9):807-822. Epub 2019 Aug 8 doi: 10.1080/14737175.2019.1648211. PMID: 31353980
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
Tian WT, Huang XJ, Mao X, Liu Q, Liu XL, Zeng S, Guo XN, Shen JY, Xu YQ, Tang HD, Yin XM, Zhang M, Tang WG, Liu XR, Tang BS, Chen SD, Cao L
Mov Disord 2018 Mar;33(3):459-467. Epub 2018 Jan 22 doi: 10.1002/mds.27274. PMID: 29356177
Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292

Therapy

Dayasiri K, Weerapperuma N, Wright J, Anand G
BMJ Case Rep 2021 Feb 5;14(2) doi: 10.1136/bcr-2020-235112. PMID: 33547116Free PMC Article
De Gusmao CM, Silveira-Moriyama L
Expert Rev Neurother 2019 Sep;19(9):807-822. Epub 2019 Aug 8 doi: 10.1080/14737175.2019.1648211. PMID: 31353980
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
Dressler D, Benecke R
J Neurol 2005 Nov;252(11):1299-306. Epub 2005 Oct 10 doi: 10.1007/s00415-005-0006-x. PMID: 16208529
Olson WL Jr
South Med J 1999 Feb;92(2):228-32. doi: 10.1097/00007611-199902000-00014. PMID: 10071674

Prognosis

Legris N, Chassin O, Nasser G, Riant F, Tournier-Lasserve E, Denier C
J Stroke Cerebrovasc Dis 2019 Feb;28(2):e3-e4. Epub 2018 Nov 28 doi: 10.1016/j.jstrokecerebrovasdis.2018.10.021. PMID: 30501978
Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Kinoshita T, Murakami Y, O'Brien DP
Neurogenetics 2017 Jan;18(1):39-47. Epub 2016 Nov 28 doi: 10.1007/s10048-016-0502-4. PMID: 27891564Free PMC Article
Tsai JD, Chou IC, Tsai FJ, Kuo HT, Tsai CH
Acta Paediatr Taiwan 2005 May-Jun;46(3):138-42. PMID: 16231560
Singh R, Macdonell RA, Scheffer IE, Crossland KM, Berkovic SF
Epileptic Disord 1999 Jun;1(2):93-9. PMID: 10937138

Clinical prediction guides

Valente P, Marte A, Franchi F, Sterlini B, Casagrande S, Corradi A, Baldelli P, Benfenati F
Mol Neurobiol 2023 Mar;60(3):1281-1296. Epub 2022 Nov 28 doi: 10.1007/s12035-022-03112-x. PMID: 36441479Free PMC Article
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
Dayasiri K, Weerapperuma N, Wright J, Anand G
BMJ Case Rep 2021 Feb 5;14(2) doi: 10.1136/bcr-2020-235112. PMID: 33547116Free PMC Article
Zhang C, Zhou X, Feng M, Yue W
Mol Genet Genomic Med 2020 Oct;8(10):e1423. Epub 2020 Jul 26 doi: 10.1002/mgg3.1423. PMID: 32715645Free PMC Article
Tian WT, Huang XJ, Liu XL, Shen JY, Liang GL, Zhu CX, Tang WG, Chen SD, Song YY, Cao L
Chin Med J (Engl) 2017 Sep 5;130(17):2088-2094. doi: 10.4103/0366-6999.213431. PMID: 28836553Free PMC Article

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