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Acquired idiopathic torsion dystonia

MedGen UID:
98279
•Concept ID:
C0393601
•
Disease or Syndrome
Synonyms: acquired idiopathic torsion dystonia; Idiopathic non-familial dystonia; idiopathic non-familial dystonia; Non-Familial Idiopathic Dystonia; non-Familial Idiopathic dystonia
SNOMED CT: Idiopathic non-familial dystonia (230321007)
 
Monarch Initiative: MONDO:0044817

Definition

Evidence of non-familial idiopathic dystonia. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Genetics and pharmacological treatment of dystonia.
Barrett MJ, Bressman S
Int Rev Neurobiol 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5. PMID: 21907099

Recent clinical studies

Etiology

The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.
Sako W, Fujita K, Vo A, Rucker JC, Rizzo JR, Niethammer M, Carbon M, Bressman SB, Uluğ AM, Eidelberg D
Brain 2015 Dec;138(Pt 12):3598-609. Epub 2015 Sep 29 doi: 10.1093/brain/awv282. PMID: 26419798Free PMC Article
All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia.
Sadnicka A, Teo JT, Kojovic M, Pareés I, Saifee TA, Kassavetis P, Schwingenschuh P, Katschnig-Winter P, Stamelou M, Mencacci NE, Rothwell JC, Edwards MJ, Bhatia KP
Eur J Neurol 2015 May;22(5):762-7. Epub 2014 Jul 18 doi: 10.1111/ene.12521. PMID: 25039324
Genetics and pharmacological treatment of dystonia.
Barrett MJ, Bressman S
Int Rev Neurobiol 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5. PMID: 21907099

Diagnosis

All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia.
Sadnicka A, Teo JT, Kojovic M, Pareés I, Saifee TA, Kassavetis P, Schwingenschuh P, Katschnig-Winter P, Stamelou M, Mencacci NE, Rothwell JC, Edwards MJ, Bhatia KP
Eur J Neurol 2015 May;22(5):762-7. Epub 2014 Jul 18 doi: 10.1111/ene.12521. PMID: 25039324
Relationship between acquired spastic talipes equinovarus and dystonia musculorum deformans.
Betz RR, Steel HH, Millar EA, Clancy M
J Pediatr Orthop 1993 Jan-Feb;13(1):15-9. doi: 10.1097/01241398-199301000-00004. PMID: 8416347

Therapy

Genetics and pharmacological treatment of dystonia.
Barrett MJ, Bressman S
Int Rev Neurobiol 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5. PMID: 21907099
Estimating allele age.
Slatkin M, Rannala B
Annu Rev Genomics Hum Genet 2000;1:225-49. doi: 10.1146/annurev.genom.1.1.225. PMID: 11701630

Prognosis

Relationship between acquired spastic talipes equinovarus and dystonia musculorum deformans.
Betz RR, Steel HH, Millar EA, Clancy M
J Pediatr Orthop 1993 Jan-Feb;13(1):15-9. doi: 10.1097/01241398-199301000-00004. PMID: 8416347
Genetics, geography and intelligence in the torsion dystonias.
Eldridge R, Edgar A, Cooper IS
Birth Defects Orig Artic Ser 1971 Feb;7(1):167-77. PMID: 5173357

Clinical prediction guides

All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia.
Sadnicka A, Teo JT, Kojovic M, Pareés I, Saifee TA, Kassavetis P, Schwingenschuh P, Katschnig-Winter P, Stamelou M, Mencacci NE, Rothwell JC, Edwards MJ, Bhatia KP
Eur J Neurol 2015 May;22(5):762-7. Epub 2014 Jul 18 doi: 10.1111/ene.12521. PMID: 25039324

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