Neurol. praxi. 2023;24(4):248-252 | DOI: 10.36290/neu.2023.007

Paroxysmal dyskinesia

doc. MUDr. Matej ©korvánek, PhD.
Neurologická klinika a Centrum pre zriedkavé extrapyramídové ochorenia, Lekárska fakulta UPJ© a Univerzitná nemocnica L. Pasteura, Koąice

Paroxysmal dyskinesia presents a heterogeneous group of disorders, mostly of genetic origin, but may be also of secondary/symptomatic or functional etiology. In terms of clinical phenotype paroxysmal dyskinesia are classified as kinesigenic, non-kinesigenic, exercise-induced and sleep-related. This review will outline the clinical phenomenology, classification, nomenclature of these disorders and focus will be placed on the differential diagnosis and manifestation of most common disorders presenting with paroxysmal dyskinesia.

Keywords: paroxysmal dyskinesia, kinesigenic, non­‑kinesigenic, exercise­‑induced, secondary, SLC2A1, PRRT2, MR1, ADCY5.

Received: February 7, 2023; Revised: February 7, 2023; Accepted: February 7, 2023; Prepublished online: February 7, 2023; Published: September 8, 2023  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
©korvánek M. Paroxysmal dyskinesia. Neurol. praxi. 2023;24(4):248-252. doi: 10.36290/neu.2023.007.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28(7):863-73. Go to original source... Go to PubMed...
    2. Bruno MK, Lee HY, Auburger GW, et al. Genotype­‑phenotype correlation of paroxysmal nonkinesigenic dys­kinesia. Neurology. 2007;68(21):1782-9. Go to original source... Go to PubMed...
    3. Carecchio M, Mencacci NE, Iodice A, et al. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. Parkinsonism Relat Disord. 2017;41:37-43. Go to original source... Go to PubMed...
    4. Ebrahimi­‑Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015;138(Pt 12):3476-95. Go to original source... Go to PubMed...
    5. Erro R, Bhatia KP, Espay AJ, Striano P. The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies. Mov Disord. 2017;32(3):310-318. Go to original source... Go to PubMed...
    6. Erro R, Bhatia KP. Unravelling of the paroxysmal dyskinesias. J Neurol Neurosurg Psychiatry. 2019;90(2):227-234. Go to original source... Go to PubMed...
    7. Erro R, Sheerin UM, Bhatia KP. Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. Mov Disord. 2014a;29(9):1108-16. Go to original source... Go to PubMed...
    8. Erro R, Stamelou M, Ganos C, Skorvanek M, Han V, Batla A, Bhatia KP. The Clinical Syndrome of Paroxysmal Exercise­‑Induced Dystonia: Diagnostic Outcomes and an Algorithm. Mov Disord Clin Pract. 2014 b;1(1):57-61. Go to original source... Go to PubMed...
    9. Ganos C, Aguirregomozcorta M, Batla A, et al. Psychogenic paroxysmal movement disorders - clinical features and diagnostic clues. Parkinsonism Relat Disord. 2014;20(1):41-6. Go to original source... Go to PubMed...
    10. Gardiner AR, Jaffer F, Dale RC, et al. The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain. 2015;138(Pt 12):3567-80. Go to original source... Go to PubMed...
    11. Chen YL, Chen DF, Ke HZ, Zhao SY, Li HF, Wu ZY. Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features. Neurol Genet. 2022;8(2):e659. Go to original source... Go to PubMed...
    12. Chen YZ, Matsushita MM, Robertson P, et al. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol. 2012;69(5):630-5. Go to original source... Go to PubMed...
    13. Lange LM, Gonzalez­‑Latapi P, Rajalingam R, et al. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. Mov Disord. 2022;37(5):905-935. Go to original source... Go to PubMed...
    14. Marras C, Lang A, van de Warrenburg BP, et al. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Mov Disord. 2016;31(4):436-57. Go to original source... Go to PubMed...
    15. Méneret A, Mohammad SS, Cif L, et al. Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study. Mov Disord. 2022;37(6):1294-1298. Go to original source... Go to PubMed...
    16. Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise­‑induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord. 2016;31(7):1041-8. Go to original source... Go to PubMed...
    17. ©korvánek M. Kapitoly modernej neurológie: Dystónie a dystonické syndrómy. Bratislava: Lundbeck Slovensko. 2015; 127 s.
    18. Tian WT, Zhan FX, Liu ZH, et al. TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large­‑Sample Study. Mov Disord. 2022;37(3):545-552. Go to original source... Go to PubMed...

    Return to the content


    Neurology for Practice

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.