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Focal, segmental or multifocal dystonia

MedGen UID:
1842644
Concept ID:
C5680914
Disease or Syndrome
Synonym: focal, segmental or multifocal dystonia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0015990
Orphanet: ORPHA1866

Definition

A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Rovin BH, Adler SG, Barratt J, Bridoux F, Burdge KA, Chan TM, Cook HT, Fervenza FC, Gibson KL, Glassock RJ, Jayne DRW, Jha V, Liew A, Liu ZH, Mejía-Vilet JM, Nester CM, Radhakrishnan J, Rave EM, Reich HN, Ronco P, Sanders JF, Sethi S, Suzuki Y, Tang SCW, Tesar V, Vivarelli M, Wetzels JFM, Lytvyn L, Craig JC, Tunnicliffe DJ, Howell M, Tonelli MA, Cheung M, Earley A, Floege J
Kidney Int 2021 Oct;100(4):753-779. doi: 10.1016/j.kint.2021.05.015. PMID: 34556300
Downie ML, Gallibois C, Parekh RS, Noone DG
Paediatr Int Child Health 2017 Nov;37(4):248-258. Epub 2017 Sep 15 doi: 10.1080/20469047.2017.1374003. PMID: 28914167
Kodner C
Am Fam Physician 2016 Mar 15;93(6):479-85. PMID: 26977832

Recent clinical studies

Etiology

Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA
Neurology 2021 Jan 26;96(4):e563-e574. Epub 2020 Oct 12 doi: 10.1212/WNL.0000000000011049. PMID: 33046615Free PMC Article
Gupta N, Pandey S
Neurol Sci 2020 Sep;41(9):2377-2388. Epub 2020 Apr 23 doi: 10.1007/s10072-020-04402-9. PMID: 32328831
Koutri E, Papadopoulou A
Ann Nutr Metab 2018;73 Suppl 4:18-28. Epub 2019 Feb 19 doi: 10.1159/000493668. PMID: 30783041
Angioi A, Pani A
J Nephrol 2016 Aug;29(4):517-23. Epub 2016 Jul 9 doi: 10.1007/s40620-016-0333-2. PMID: 27392958
Ashburner J, Friston KJ
Neuroimage 2000 Jun;11(6 Pt 1):805-21. doi: 10.1006/nimg.2000.0582. PMID: 10860804

Diagnosis

Stephen CD
Continuum (Minneap Minn) 2022 Oct 1;28(5):1435-1475. doi: 10.1212/CON.0000000000001159. PMID: 36222773Free PMC Article
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M
Mov Disord 2022 Jul;37(7):1547-1554. Epub 2022 Jun 20 doi: 10.1002/mds.29074. PMID: 35722775Free PMC Article
Gupta N, Pandey S
Neurol Sci 2020 Sep;41(9):2377-2388. Epub 2020 Apr 23 doi: 10.1007/s10072-020-04402-9. PMID: 32328831
Kurmi Y, Chaurasia V, Ganesh N
J Med Imaging Radiat Sci 2019 Dec;50(4):514-528. Epub 2019 Sep 6 doi: 10.1016/j.jmir.2019.07.004. PMID: 31501064
Koutri E, Papadopoulou A
Ann Nutr Metab 2018;73 Suppl 4:18-28. Epub 2019 Feb 19 doi: 10.1159/000493668. PMID: 30783041

Therapy

Stephen CD
Continuum (Minneap Minn) 2022 Oct 1;28(5):1435-1475. doi: 10.1212/CON.0000000000001159. PMID: 36222773Free PMC Article
Hodson EM, Sinha A, Cooper TE
Cochrane Database Syst Rev 2022 Feb 28;2(2):CD003233. doi: 10.1002/14651858.CD003233.pub3. PMID: 35224732Free PMC Article
Troost JP, Trachtman H, Spino C, Kaskel FJ, Friedman A, Moxey-Mims MM, Fine RN, Gassman JJ, Kopp JB, Walsh L, Wang R, Gipson DS
Am J Kidney Dis 2021 Feb;77(2):216-225. Epub 2020 Aug 10 doi: 10.1053/j.ajkd.2020.04.014. PMID: 32791086Free PMC Article
Early Breast Cancer Trialists' Collaborative Group (EBCTCG)
Lancet Oncol 2018 Jan;19(1):27-39. Epub 2017 Dec 11 doi: 10.1016/S1470-2045(17)30777-5. PMID: 29242041Free PMC Article
Ashburner J, Friston KJ
Neuroimage 2000 Jun;11(6 Pt 1):805-21. doi: 10.1006/nimg.2000.0582. PMID: 10860804

Prognosis

Bai J, Zhang T, Wang Y, Cao J, Duan Z, Ji L, Zhou Y, Hao C, Guo Q
Ren Fail 2023 Dec;45(1):2201341. doi: 10.1080/0886022X.2023.2201341. PMID: 37070350Free PMC Article
Haviland JS, Owen JR, Dewar JA, Agrawal RK, Barrett J, Barrett-Lee PJ, Dobbs HJ, Hopwood P, Lawton PA, Magee BJ, Mills J, Simmons S, Sydenham MA, Venables K, Bliss JM, Yarnold JR; START Trialists' Group
Lancet Oncol 2013 Oct;14(11):1086-1094. Epub 2013 Sep 19 doi: 10.1016/S1470-2045(13)70386-3. PMID: 24055415
McGrogan A, Franssen CF, de Vries CS
Nephrol Dial Transplant 2011 Feb;26(2):414-30. Epub 2010 Nov 10 doi: 10.1093/ndt/gfq665. PMID: 21068142
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Ginsberg RJ, Rubinstein LV
Ann Thorac Surg 1995 Sep;60(3):615-22; discussion 622-3. doi: 10.1016/0003-4975(95)00537-u. PMID: 7677489

Clinical prediction guides

Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M
Mov Disord 2022 Jul;37(7):1547-1554. Epub 2022 Jun 20 doi: 10.1002/mds.29074. PMID: 35722775Free PMC Article
Ercoli T, Erro R, Fabbrini G, Pellicciari R, Girlanda P, Terranova C, Avanzino L, Di Biasio F, Barone P, Esposito M, De Joanna G, Eleopra R, Bono F, Manzo L, Bentivoglio AR, Petracca M, Mascia MM, Albanese A, Castagna A, Ceravolo R, Altavista MC, Scaglione C, Magistrelli L, Zibetti M, Bertolasi L, Coletti Moja M, Cotelli MS, Cossu G, Minafra B, Pisani A, Misceo S, Modugno N, Romano M, Cassano D, Berardelli A, Defazio G; Italian Dystonia Registry Participants
Parkinsonism Relat Disord 2021 Jun;87:70-74. Epub 2021 May 12 doi: 10.1016/j.parkreldis.2021.04.022. PMID: 33991781
Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA
Neurology 2021 Jan 26;96(4):e563-e574. Epub 2020 Oct 12 doi: 10.1212/WNL.0000000000011049. PMID: 33046615Free PMC Article
Bose B, Cattran D; Toronto Glomerulonephritis Registry
Clin J Am Soc Nephrol 2014 Mar;9(3):626-32. Epub 2013 Aug 29 doi: 10.2215/CJN.05810513. PMID: 23990165Free PMC Article
Kistler PM, Roberts-Thomson KC, Haqqani HM, Fynn SP, Singarayar S, Vohra JK, Morton JB, Sparks PB, Kalman JM
J Am Coll Cardiol 2006 Sep 5;48(5):1010-7. Epub 2006 Aug 17 doi: 10.1016/j.jacc.2006.03.058. PMID: 16949495

Recent systematic reviews

Hodson EM, Sinha A, Cooper TE
Cochrane Database Syst Rev 2022 Feb 28;2(2):CD003233. doi: 10.1002/14651858.CD003233.pub3. PMID: 35224732Free PMC Article
Fazlollahi A, Zahmatyar M, Noori M, Nejadghaderi SA, Sullman MJM, Shekarriz-Foumani R, Kolahi AA, Singh K, Safiri S
Rev Med Virol 2022 Jul;32(4):e2318. Epub 2021 Dec 17 doi: 10.1002/rmv.2318. PMID: 34921468
Gentile L, Benazzo F, De Rosa F, Boriani S, Dallagiacoma G, Franceschetti G, Gaeta M, Cuzzocrea F
Eur Rev Med Pharmacol Sci 2019 Apr;23(2 Suppl):117-128. doi: 10.26355/eurrev_201904_17481. PMID: 30977878
Almasri J, Adusumalli J, Asi N, Lakis S, Alsawas M, Prokop LJ, Bradbury A, Kolh P, Conte MS, Murad MH
J Vasc Surg 2018 Aug;68(2):624-633. Epub 2018 May 24 doi: 10.1016/j.jvs.2018.01.066. PMID: 29804736
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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