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| 1 | Rita Xu | + 616 word(s) | 616 | 2020-12-15 07:32:32 |
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Xu, R. Myoclonus-Dystonia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4429 (accessed on 27 September 2026).
Xu R. Myoclonus-Dystonia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4429. Accessed September 27, 2026.
Xu, Rita. "Myoclonus-Dystonia" Encyclopedia, https://encyclopedia.pub/entry/4429 (accessed September 27, 2026).
Xu, R. (2020, December 23). Myoclonus-Dystonia. In Encyclopedia. https://encyclopedia.pub/entry/4429
Xu, Rita. "Myoclonus-Dystonia." Encyclopedia. Web. 23 December, 2020.
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Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).
genetic conditions
References
- Esapa CT, Waite A, Locke M, Benson MA, Kraus M, McIlhinney RA, Sillitoe RV,Beesley PW, Blake DJ. SGCE missense mutations that cause myoclonus-dystoniasyndrome impair epsilon-sarcoglycan trafficking to the plasma membrane:modulation by ubiquitination and torsinA. Hum Mol Genet. 2007 Feb 1;16(3):327-42.
- Gerrits MC, Foncke EM, Koelman JH, Tijssen MA. Pediatric writer's cramp inmyoclonus-dystonia: maternal imprinting hides positive family history. Eur JPaediatr Neurol. 2009 Mar;13(2):178-80. doi: 10.1016/j.ejpn.2008.03.007.
- Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, HaagmansMA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. RELN rarevariants in myoclonus-dystonia. Mov Disord. 2015 Mar;30(3):415-9. doi:10.1002/mds.26070.
- Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM,Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M,Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J,Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. A missensemutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008.
- Nardocci N, Zorzi G, Barzaghi C, Zibordi F, Ciano C, Ghezzi D, Garavaglia B.Myoclonus-dystonia syndrome: clinical presentation, disease course, and geneticfeatures in 11 families. Mov Disord. 2008 Jan;23(1):28-34.
- Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A,Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M,Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinicalpredictors of genotype. J Neurol. 2014 Dec;261(12):2296-304. doi:10.1007/s00415-014-7488-3.
- Ritz K, Gerrits MC, Foncke EM, van Ruissen F, van der Linden C, Vergouwen MD, Bloem BR, Vandenberghe W, Crols R, Speelman JD, Baas F, Tijssen MA.Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J NeurolNeurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099.
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