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Yang, C. ADCY5-related Dyskinesia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4280 (accessed on 26 September 2026).
Yang C. ADCY5-related Dyskinesia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4280. Accessed September 26, 2026.
Yang, Catherine. "ADCY5-related Dyskinesia" Encyclopedia, https://encyclopedia.pub/entry/4280 (accessed September 26, 2026).
Yang, C. (2020, December 23). ADCY5-related Dyskinesia. In Encyclopedia. https://encyclopedia.pub/entry/4280
Yang, Catherine. "ADCY5-related Dyskinesia." Encyclopedia. Web. 23 December, 2020.
ADCY5-related Dyskinesia
Edit

ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face.

genetic conditions

References

  1. Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P,Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S. A de novoADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. MovDisord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115.
  2. Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, StessmanHA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B,Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE,Torkamani A, Roze E, Bird TD, Raskind WH. ADCY5-related dyskinesia: Broaderspectrum and genotype-phenotype correlations. Neurology. 2015 Dec8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058.
  3. Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-VanZeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ,Raskind WH, Torkamani A. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119.
  4. Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Autosomal dominant familialdyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol. 2012 May;69(5):630-5. doi:10.1001/archneurol.2012.54.
  5. Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C,Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP. ADCY5 mutations are anothercause of benign hereditary chorea. Neurology. 2015 Jul 7;85(1):80-8. doi:10.1212/WNL.0000000000001720.
  6. Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R,Bird TD. Familial dyskinesia and facial myokymia (FDFM): Follow-up of a largefamily and linkage to chromosome 3p21-3q21. Am J Med Genet B NeuropsychiatrGenet. 2009 Jun 5;150B(4):570-4. doi: 10.1002/ajmg.b.30879.
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Update Date: 23 Dec 2020
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