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Persistent combined dystonia

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

Professional guidelines

PubMed

Meta-Regression Analysis of the Long-Term Effects of Pallidal and Subthalamic Deep Brain Stimulation for the Treatment of Isolated Dystonia.
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
Position paper: appropriate use of pharmacotherapeutic agents by the orofacial pain dentist.
Heir GM, Haddox JD, Crandall J, Eliav E, Radford S, Schwartz A, Jaeger B, Ganzberg S, Aquino C, Benoliel R; American Academy of Orofacial Pain
J Orofac Pain 2011 Fall;25(4):381-90. PMID: 22329011
Pathogenesis and treatment of neuroleptic malignant syndrome.
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

Therapy

OnabotulinumtoxinA and cognitive behavioral therapy in functional dystonia: A pilot randomized clinical trial.
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
Status dystonicus: a practice guide.
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
Dystonia.
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
DOPA-sensitive dystonia-plus syndrome.
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Systemic therapy of dystonia.
Fahn S
Can J Neurol Sci 1987 Aug;14(3 Suppl):528-32. doi: 10.1017/s0317167100038051. PMID: 3315156

Prognosis

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
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
Dystonia associated with pontomesencephalic lesions.
Loher TJ, Krauss JK
Mov Disord 2009 Jan 30;24(2):157-67. doi: 10.1002/mds.22196. PMID: 18951533
DOPA-sensitive dystonia-plus syndrome.
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Atypical antipsychotics in the treatment of drug-induced psychosis in Parkinson's disease.
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
The postconcussion syndrome and the sequelae of mild head injury.
Evans RW
Neurol Clin 1992 Nov;10(4):815-47. PMID: 1435659

Clinical prediction guides

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
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
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
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
OnabotulinumtoxinA and cognitive behavioral therapy in functional dystonia: A pilot randomized clinical trial.
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
DOPA-sensitive dystonia-plus syndrome.
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Atypical antipsychotics in the treatment of drug-induced psychosis in Parkinson's disease.
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

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
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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    Clinical resources

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