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Familial idiopathic torsion dystonia

MedGen UID:
95980
•Concept ID:
C0393598
•
Disease or Syndrome
Synonyms: Dystonia, Idiopathic Familial; Dystonias, Idiopathic Familial; Familial Dystonia, Idiopathic; Familial Dystonias, Idiopathic; Idiopathic Familial Dystonia; Idiopathic Familial Dystonias
SNOMED CT: Idiopathic familial dystonia (230318005)
 
Monarch Initiative: MONDO:0044816

Definition

An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial idiopathic torsion dystonia

Professional guidelines

PubMed

Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
Kimmich O, Bradley D, Whelan R, Mulrooney N, Reilly RB, Hutchinson S, O'Riordan S, Hutchinson M
Brain 2011 Sep;134(Pt 9):2656-63. Epub 2011 Aug 11 doi: 10.1093/brain/awr194. PMID: 21840890
Dystonia: genetics and treatment update.
Bhidayasiri R
Neurologist 2006 Mar;12(2):74-85. doi: 10.1097/01.nrl.0000195831.46000.2d. PMID: 16534444
Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia.
Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB
Ann Neurol 1992 Nov;32(5):603-8. doi: 10.1002/ana.410320502. PMID: 1449240

Recent clinical studies

Etiology

Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction.
Pocratsky AM, Nascimento F, Özyurt MG, White IJ, Sullivan R, O'Callaghan BJ, Smith CC, Surana S, Beato M, Brownstone RM
Sci Transl Med 2023 May 3;15(694):eadg3904. doi: 10.1126/scitranslmed.adg3904. PMID: 37134150Free PMC Article
Genetics of primary torsion dystonia.
Brüggemann N, Klein C
Curr Neurol Neurosci Rep 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. PMID: 20425035
Clinical variants of idiopathic torsion dystonia.
Fahn S
J Neurol Neurosurg Psychiatry 1989 Jun;Suppl(Suppl):96-100. doi: 10.1136/jnnp.52.suppl.96. PMID: 2666583Free PMC Article
Hereditary whispering dysphonia.
Parker N
J Neurol Neurosurg Psychiatry 1985 Mar;48(3):218-24. doi: 10.1136/jnnp.48.3.218. PMID: 3156966Free PMC Article
Clinical psychiatry.
Lowenbach H, Gianturco DT, Workman SN
Prog Neurol Psychiatry 1967;22:385-401. doi: 10.1016/b978-1-4831-9662-6.50023-8. PMID: 4880169

Diagnosis

Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).
Rachad L, El Kadmiri N, Slassi I, El Otmani H, Nadifi S
Mol Neurobiol 2017 Mar;54(2):939-942. Epub 2016 Jan 20 doi: 10.1007/s12035-016-9712-x. PMID: 26790671
Genetics of primary torsion dystonia.
Brüggemann N, Klein C
Curr Neurol Neurosci Rep 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. PMID: 20425035
Dystonia: genetics and treatment update.
Bhidayasiri R
Neurologist 2006 Mar;12(2):74-85. doi: 10.1097/01.nrl.0000195831.46000.2d. PMID: 16534444
Clinical variants of idiopathic torsion dystonia.
Fahn S
J Neurol Neurosurg Psychiatry 1989 Jun;Suppl(Suppl):96-100. doi: 10.1136/jnnp.52.suppl.96. PMID: 2666583Free PMC Article
Clinical psychiatry.
Lowenbach H, Gianturco DT, Workman SN
Prog Neurol Psychiatry 1967;22:385-401. doi: 10.1016/b978-1-4831-9662-6.50023-8. PMID: 4880169

Therapy

Dystonia: genetics and treatment update.
Bhidayasiri R
Neurologist 2006 Mar;12(2):74-85. doi: 10.1097/01.nrl.0000195831.46000.2d. PMID: 16534444
Stuttering may be a type of action dystonia.
Kiziltan G, Akalin MA
Mov Disord 1996 May;11(3):278-82. doi: 10.1002/mds.870110311. PMID: 8723145
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q.
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
Catecholamines and neurologic diseases (second of two parts).
Moskowitz MA, Wurtman RJ
N Engl J Med 1975 Aug 14;293(7):332-8. doi: 10.1056/NEJM197508142930705. PMID: 125386
Clinical psychiatry.
Lowenbach H, Gianturco DT, Workman SN
Prog Neurol Psychiatry 1967;22:385-401. doi: 10.1016/b978-1-4831-9662-6.50023-8. PMID: 4880169

Prognosis

Genetics and pathophysiology of primary dystonia with special emphasis on DYT1 and DYT5.
Segawa M, Nomura Y
Semin Neurol 2014 Jul;34(3):306-11. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386768. PMID: 25192508
Genetics of primary torsion dystonia.
Brüggemann N, Klein C
Curr Neurol Neurosci Rep 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. PMID: 20425035
Rapid-onset dystonia-parkinsonism.
Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, Walsh LE, Kasarskis EJ, Butler IJ, Breakefield XO
Neurology 1993 Dec;43(12):2596-602. doi: 10.1212/wnl.43.12.2596. PMID: 8255463
Hereditary whispering dysphonia.
Parker N
J Neurol Neurosurg Psychiatry 1985 Mar;48(3):218-24. doi: 10.1136/jnnp.48.3.218. PMID: 3156966Free PMC Article
Clinical psychiatry.
Lowenbach H, Gianturco DT, Workman SN
Prog Neurol Psychiatry 1967;22:385-401. doi: 10.1016/b978-1-4831-9662-6.50023-8. PMID: 4880169

Clinical prediction guides

DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Bally JF, Camargos S, Oliveira Dos Santos C, Kern DS, Lee T, Pereira da Silva-Junior F, Puga RD, Cardoso F, Barbosa ER, Yadav R, Ozelius LJ, de Carvalho Aguiar P, Lang AE
Neurology 2021 Apr 6;96(14):e1887-e1897. Epub 2020 Sep 17 doi: 10.1212/WNL.0000000000010882. PMID: 32943487Free PMC Article
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C
Ann Neurol 2013 Apr;73(4):537-45. Epub 2013 Apr 17 doi: 10.1002/ana.23829. PMID: 23595291Free PMC Article
Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
Fasano A, Nardocci N, Elia AE, Zorzi G, Bentivoglio AR, Albanese A
Mov Disord 2006 Sep;21(9):1411-8. doi: 10.1002/mds.21000. PMID: 16773641
Cervical dystonia (spasmodic torticollis). Some aspects of the natural history.
Van Zandijcke M
Acta Neurol Belg 1995 Dec;95(4):210-5. PMID: 8553794
Linkage analysis in British and French families with idiopathic torsion dystonia.
Warner TT, Fletcher NA, Davis MB, Ahmad F, Conway D, Feve A, Rondot P, Marsden CD, Harding AE
Brain 1993 Jun;116 ( Pt 3):739-44. doi: 10.1093/brain/116.3.739. PMID: 8513401

Recent systematic reviews

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, Béroud C, Collod-Béroud G
Hum Mutat 2011 Nov;32(11):1213-24. Epub 2011 Sep 15 doi: 10.1002/humu.21564. PMID: 21793105

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