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Early Onset Primary Dystonia(EOTD)

MedGen UID:
854759
•Concept ID:
C3888090
•
Disease or Syndrome
Synonyms: Dystonia 1, Torsion, Autosomal Dominant; Dystonia Musculorum Deformans 1; Dystonia musculorum deformans type 1; Dyt1; Early onset torsion dystonia; Early-Onset Generalized Torsion Dystonia; Early-Onset Primary Dystonia; Early-Onset Torsion Dystonia; Oppenheim Dystonia; Oppenheim's Dystonia; Primary Torsion Dystonia; Torsion dystonia 1, autosomal dominant
 
OMIM®: 128100

Definition

A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEarly Onset Primary Dystonia

Professional guidelines

PubMed

EFNS guidelines on diagnosis and treatment of primary dystonias.
Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J
Eur J Neurol 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x. PMID: 20482602
Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma.
Meaney C, Norbury G
Prenat Diagn 2009 Dec;29(13):1218-21. doi: 10.1002/pd.2385. PMID: 19844939
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R
Lancet Neurol 2009 May;8(5):441-6. Epub 2009 Apr 1 doi: 10.1016/S1474-4422(09)70081-X. PMID: 19345147Free PMC Article

Recent clinical studies

Etiology

Overview of primary monogenic dystonia.
Spatola M, Wider C
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S158-61. doi: 10.1016/S1353-8020(11)70049-9. PMID: 22166420
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
Cheng FB, Ozelius LJ, Wan XH, Feng JC, Ma LY, Yang YM, Wang L
J Neurol 2012 Feb;259(2):342-7. Epub 2011 Jul 29 doi: 10.1007/s00415-011-6196-5. PMID: 21800139
Novel THAP1 sequence variants in primary dystonia.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS
Neurology 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca. PMID: 20083799Free PMC Article
Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma.
Meaney C, Norbury G
Prenat Diagn 2009 Dec;29(13):1218-21. doi: 10.1002/pd.2385. PMID: 19844939

Diagnosis

Overview of primary monogenic dystonia.
Spatola M, Wider C
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S158-61. doi: 10.1016/S1353-8020(11)70049-9. PMID: 22166420
Early-onset primary dystonia.
Robottom BJ, Weiner WJ, Comella CL
Handb Clin Neurol 2011;100:465-79. doi: 10.1016/B978-0-444-52014-2.00036-7. PMID: 21496603
EFNS guidelines on diagnosis and treatment of primary dystonias.
Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J
Eur J Neurol 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x. PMID: 20482602
Clinical and genetic features of DYT1 and DYT5.
Wang XZ, Zhong N
Beijing Da Xue Xue Bao Yi Xue Ban 2006 Feb 18;38(1):107-9. PMID: 16415980
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L, Nardocci N
Mov Disord 2002 Mar;17(2):407-8. doi: 10.1002/mds.10045. PMID: 11921134

Therapy

4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.
Cho JA, Zhang X, Miller GM, Lencer WI, Nery FC
PLoS One 2014;9(11):e110086. Epub 2014 Nov 7 doi: 10.1371/journal.pone.0110086. PMID: 25379658Free PMC Article
EFNS guidelines on diagnosis and treatment of primary dystonias.
Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J
Eur J Neurol 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x. PMID: 20482602

Prognosis

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma.
Meaney C, Norbury G
Prenat Diagn 2009 Dec;29(13):1218-21. doi: 10.1002/pd.2385. PMID: 19844939
First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.
Frédéric M, Lucarz E, Monino C, Saquet C, Thorel D, Claustres M, Tuffery-Giraud S, Collod-Béroud G
Mov Disord 2007 Apr 30;22(6):884-8. doi: 10.1002/mds.21391. PMID: 17290457

Clinical prediction guides

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma.
Meaney C, Norbury G
Prenat Diagn 2009 Dec;29(13):1218-21. doi: 10.1002/pd.2385. PMID: 19844939

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