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Familial Dystonia

MedGen UID:
199838
Concept ID:
C0752207
Disease or Syndrome
Synonyms: Dystonia, Familial; Dystonia, Hereditary; Dystonias, Familial; Dystonias, Hereditary; Familial Dystonias; Hereditary Dystonia; Hereditary Dystonias

Professional guidelines

PubMed

Camargo CH, Camargos ST, Raskin S, Cardoso FE, Teive HA
Arq Neuropsiquiatr 2014 Oct;72(10):753-6. doi: 10.1590/0004-282x20140123. PMID: 25337725

Recent clinical studies

Etiology

Fan S, Cao Q, Peng B, Yin B, Xiao T, Sun L, Dong H
Neurol Sci 2022 Jul;43(7):4547-4549. Epub 2022 Apr 8 doi: 10.1007/s10072-022-06060-5. PMID: 35396637
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J
Parkinsonism Relat Disord 2020 May;74:50-56. Epub 2020 Apr 20 doi: 10.1016/j.parkreldis.2020.04.003. PMID: 32334381
Ledoux MS, Dauer WT, Warner TT
Mov Disord 2013 Jun 15;28(7):968-81. doi: 10.1002/mds.25547. PMID: 23893453Free PMC Article
Newman JR, Sutherland GT, Boyle RS, Limberg N, Blum S, O'Sullivan JD, Silburn PA, Mellick GD
Parkinsonism Relat Disord 2012 May;18(4):351-7. Epub 2011 Dec 14 doi: 10.1016/j.parkreldis.2011.11.024. PMID: 22172551
Le Ber I, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A
Neurology 2006 Nov 28;67(10):1769-73. doi: 10.1212/01.wnl.0000244484.60489.50. PMID: 17130408

Diagnosis

Fan S, Cao Q, Peng B, Yin B, Xiao T, Sun L, Dong H
Neurol Sci 2022 Jul;43(7):4547-4549. Epub 2022 Apr 8 doi: 10.1007/s10072-022-06060-5. PMID: 35396637
Antelmi E, Conti E, Carecchio M, Tinazzi M
Tremor Other Hyperkinet Mov (N Y) 2020 Dec 11;10:51. doi: 10.5334/tohm.558. PMID: 33354397Free PMC Article
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J
Parkinsonism Relat Disord 2020 May;74:50-56. Epub 2020 Apr 20 doi: 10.1016/j.parkreldis.2020.04.003. PMID: 32334381
van der Stouwe AMM, Everlo CSJ, Tijssen MAJ
Parkinsonism Relat Disord 2019 Dec;69:71-78. Epub 2019 Oct 19 doi: 10.1016/j.parkreldis.2019.10.017. PMID: 31698217
Comella CL
Parkinsonism Relat Disord 2018 Jan;46 Suppl 1:S66-S69. Epub 2017 Jun 30 doi: 10.1016/j.parkreldis.2017.06.025. PMID: 28843401

Therapy

Antelmi E, Conti E, Carecchio M, Tinazzi M
Tremor Other Hyperkinet Mov (N Y) 2020 Dec 11;10:51. doi: 10.5334/tohm.558. PMID: 33354397Free PMC Article
Wahlström J, Ozelius L, Kramer P, Kyllerman M, Schuback D, Forsgren L, Holmgren G, Drugge U, Sanner G, Fahn S
Clin Genet 1994 Feb;45(2):88-92. doi: 10.1111/j.1399-0004.1994.tb04000.x. PMID: 8004804
Coleman MP, Barnet A
Trans Am Neurol Assoc 1969;94:91-5. PMID: 4313967

Prognosis

Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia KP, Bras J
Eur J Neurol 2020 Aug;27(8):1471-1477. Epub 2020 May 3 doi: 10.1111/ene.14228. PMID: 32212350
Le Ber I, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A
Neurology 2006 Nov 28;67(10):1769-73. doi: 10.1212/01.wnl.0000244484.60489.50. PMID: 17130408
Mazarib A, Simon ES, Korczyn AD, Falik-Zaccai Z, Gazit E, Giladi N
Isr Med Assoc J 2000 Jul;2(7):529-31. PMID: 10979329
Friedman A, Fahn S
Neurology 1986 Mar;36(3):398-400. doi: 10.1212/wnl.36.3.398. PMID: 3951708

Clinical prediction guides

Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia KP, Bras J
Eur J Neurol 2020 Aug;27(8):1471-1477. Epub 2020 May 3 doi: 10.1111/ene.14228. PMID: 32212350
Newman JR, Sutherland GT, Boyle RS, Limberg N, Blum S, O'Sullivan JD, Silburn PA, Mellick GD
Parkinsonism Relat Disord 2012 May;18(4):351-7. Epub 2011 Dec 14 doi: 10.1016/j.parkreldis.2011.11.024. PMID: 22172551
Gajos A, Piaskowski S, Sławek J, Ochudło S, Opala G, Łobińska A, Honczarenko K, Budrewicz S, Koszewicz M, Pełszyńska B, Liberski PP, Bogucki A
Neurol Neurochir Pol 2007 Nov-Dec;41(6):487-94. PMID: 18224570
Wahlström J, Ozelius L, Kramer P, Kyllerman M, Schuback D, Forsgren L, Holmgren G, Drugge U, Sanner G, Fahn S
Clin Genet 1994 Feb;45(2):88-92. doi: 10.1111/j.1399-0004.1994.tb04000.x. PMID: 8004804
Friedman A, Fahn S
Neurology 1986 Mar;36(3):398-400. doi: 10.1212/wnl.36.3.398. PMID: 3951708

Recent systematic reviews

van der Stouwe AMM, Everlo CSJ, Tijssen MAJ
Parkinsonism Relat Disord 2019 Dec;69:71-78. Epub 2019 Oct 19 doi: 10.1016/j.parkreldis.2019.10.017. PMID: 31698217

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