Details of Disease

General Information of Disease (ID: DIS5XVXE)

• Disease Name: Paroxysmal dyskinesia
• Synonyms: paroxysmal choreoathetosis; paroxysmal dystonic choreoathetosis
• Definition: Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).
• Disease Hierarchy:
  DISV0MSQ: Paroxysmal dystonia
  DIS5XVXE: Paroxysmal dyskinesia
• Disease Identifiers:
  MONDO ID: MONDO_0015427
  MESH ID: D002819
  UMLS CUI: C0752210
  MedGen ID: 156242
  HPO ID: HP:0007166
  Orphanet ID: 1431

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA2D2	TTU8P3M	Strong	Biomarker	[1]
FGF14	TTKJX1V	Strong	Biomarker	[2]
KCNMA1	TTE87WJ	Strong	Genetic Variation	[3]
SLC2A1	TT79TKF	Strong	Genetic Variation	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A2	DTQ8MP1	Strong	Biomarker	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
COMT	DEV3T4A	Moderate	Autosomal dominant	[6]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRRT2	OTCJUBDO	Limited	Genetic Variation	[7]
COMT	OTPWKTQG	Moderate	Autosomal dominant	[6]
ECHS1	OTS0593S	Strong	Biomarker	[8]
PIGN	OTHHTJKX	Strong	Genetic Variation	[9]
PNKD	OT6G9UXN	Strong	Genetic Variation	[10]
TAF1	OTDYS5G4	Strong	Biomarker	[11]

References

• [1] entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.J Biol Chem. 2004 Feb 20;279(8):7322-30. doi: 10.1074/jbc.M308778200. Epub 2003 Dec 2.
• [2] SCA27 caused by a chromosome translocation: further delineation of the phenotype.Neurogenetics. 2009 Oct;10(4):371-4. doi: 10.1007/s10048-009-0197-x. Epub 2009 May 27.
• [3] Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy.Balkan Med J. 2018 Jul 24;35(4):336-339. doi: 10.4274/balkanmedj.2017.0986. Epub 2018 Mar 16.
• [4] Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.J Neurol. 2019 Jun;266(6):1439-1448. doi: 10.1007/s00415-019-09280-6. Epub 2019 Mar 20.
• [5] X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.J Neurol. 2005 Jun;252(6):663-6. doi: 10.1007/s00415-005-0713-3. Epub 2005 Apr 18.
• [6] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [7] Paroxysmal movement disorders - practical update on diagnosis and management.Expert Rev Neurother. 2019 Sep;19(9):807-822. doi: 10.1080/14737175.2019.1648211. Epub 2019 Aug 8.
• [8] Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19.
• [9] A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.Neurogenetics. 2017 Jan;18(1):39-47. doi: 10.1007/s10048-016-0502-4. Epub 2016 Nov 28.
• [10] The clinical and genetic heterogeneity of paroxysmal dyskinesias.Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23.
• [11] Genetics and pharmacological treatment of dystonia.Int Rev Neurobiol. 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5.