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Persistent combined dystonia

MedGen UID:
1842885
Concept ID:
C5681153
Disease or Syndrome
Orphanet: ORPHA391711

Professional guidelines

PubMed

Wu YS, Ni LH, Fan RM, Yao MY
World Neurosurg 2019 Sep;129:e409-e416. Epub 2019 May 27 doi: 10.1016/j.wneu.2019.05.165. PMID: 31146039
Friedman JH, Factor SA
Mov Disord 2000 Mar;15(2):201-11. doi: 10.1002/1531-8257(200003)15:2<201::aid-mds1001>3.0.co;2-d. PMID: 10752567
Ebadi M, Pfeiffer RF, Murrin LC
Gen Pharmacol 1990;21(4):367-86. doi: 10.1016/0306-3623(90)90685-f. PMID: 1974219

Recent clinical studies

Etiology

Shen G, Nan G, Shin CW, Park H, Lee KY, Jeon B
BMC Neurol 2016 Nov 17;16(1):228. doi: 10.1186/s12883-016-0745-6. PMID: 27855656Free PMC Article
Allen NM, Lin JP, Lynch T, King MD
Dev Med Child Neurol 2014 Feb;56(2):105-12. Epub 2013 Dec 4 doi: 10.1111/dmcn.12339. PMID: 24304390
Loher TJ, Krauss JK
Mov Disord 2009 Jan 30;24(2):157-67. doi: 10.1002/mds.22196. PMID: 18951533
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Fahn S
Can J Neurol Sci 1987 Aug;14(3 Suppl):528-32. doi: 10.1017/s0317167100038051. PMID: 3315156

Diagnosis

Członkowska A, Litwin T, Chabik G
Handb Clin Neurol 2017;142:101-119. doi: 10.1016/B978-0-444-63625-6.00010-0. PMID: 28433096
Allen NM, Lin JP, Lynch T, King MD
Dev Med Child Neurol 2014 Feb;56(2):105-12. Epub 2013 Dec 4 doi: 10.1111/dmcn.12339. PMID: 24304390
Morgante F, Klein C
Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1225-41. doi: 10.1212/01.CON.0000436154.08791.67. PMID: 24092288
Lohmann K, Klein C
Mov Disord 2013 Jun 15;28(7):899-905. doi: 10.1002/mds.25536. PMID: 23893446
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726

Therapy

Vizcarra JA, Lopez-Castellanos JR, Dwivedi AK, Schmerler DA, Ries S, Espay AJ
Parkinsonism Relat Disord 2019 Jun;63:174-178. Epub 2019 Feb 13 doi: 10.1016/j.parkreldis.2019.02.009. PMID: 30777651
Allen NM, Lin JP, Lynch T, King MD
Dev Med Child Neurol 2014 Feb;56(2):105-12. Epub 2013 Dec 4 doi: 10.1111/dmcn.12339. PMID: 24304390
Morgante F, Klein C
Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1225-41. doi: 10.1212/01.CON.0000436154.08791.67. PMID: 24092288
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Fahn S
Can J Neurol Sci 1987 Aug;14(3 Suppl):528-32. doi: 10.1017/s0317167100038051. PMID: 3315156

Prognosis

Loher TJ, Krauss JK
Mov Disord 2009 Jan 30;24(2):157-67. doi: 10.1002/mds.22196. PMID: 18951533
Perren F, Clarke S, Bogousslavsky J
Arch Neurol 2005 Aug;62(8):1212-6. doi: 10.1001/archneur.62.8.1212. PMID: 16087760
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Friedman JH, Factor SA
Mov Disord 2000 Mar;15(2):201-11. doi: 10.1002/1531-8257(200003)15:2<201::aid-mds1001>3.0.co;2-d. PMID: 10752567
Evans RW
Neurol Clin 1992 Nov;10(4):815-47. PMID: 1435659

Clinical prediction guides

He P, Wang Q, Hong X, Yuan H
Am J Med Genet A 2023 Jan;191(1):70-76. Epub 2022 Oct 11 doi: 10.1002/ajmg.a.62988. PMID: 36218002
Lüthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versées W, Verstreken P, Casari G, Guerrini R
Brain 2019 Aug 1;142(8):2319-2335. doi: 10.1093/brain/awz175. PMID: 31257402
Vizcarra JA, Lopez-Castellanos JR, Dwivedi AK, Schmerler DA, Ries S, Espay AJ
Parkinsonism Relat Disord 2019 Jun;63:174-178. Epub 2019 Feb 13 doi: 10.1016/j.parkreldis.2019.02.009. PMID: 30777651
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Friedman JH, Factor SA
Mov Disord 2000 Mar;15(2):201-11. doi: 10.1002/1531-8257(200003)15:2<201::aid-mds1001>3.0.co;2-d. PMID: 10752567

Recent systematic reviews

He P, Wang Q, Hong X, Yuan H
Am J Med Genet A 2023 Jan;191(1):70-76. Epub 2022 Oct 11 doi: 10.1002/ajmg.a.62988. PMID: 36218002

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