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Torsion dystonia 13(DYT13)

MedGen UID:
335918
Concept ID:
C1843264
Disease or Syndrome
Synonym: Dystonia 13
SNOMED CT: Primary dystonia type 13 (719278006); Primary dystonia DYT13 type (719278006); Primary dystonia with mixed phenotype (719278006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0011886
OMIM®: 607671
Orphanet: ORPHA98807

Definition

DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner. [from SNOMEDCT_US]

Clinical features

From HPO
Torsion dystonia
MedGen UID:
3941
Concept ID:
C0013423
Disease or Syndrome
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Writer cramp
MedGen UID:
57821
Concept ID:
C0154676
Disease or Syndrome
A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.
Limb dystonia
MedGen UID:
152944
Concept ID:
C0751093
Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Oromandibular dystonia
MedGen UID:
473560
Concept ID:
C2242577
Sign or Symptom
A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
Blepharospasm
MedGen UID:
599
Concept ID:
C0005747
Disease or Syndrome
A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTorsion dystonia 13
Follow this link to review classifications for Torsion dystonia 13 in Orphanet.

Professional guidelines

PubMed

Lindeboom R, Brans JW, Aramideh M, Speelman HD, De Haan RJ
Mov Disord 1998 Jul;13(4):706-12. doi: 10.1002/mds.870130417. PMID: 9686779
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
Bechtereva NP, Bondartchuk AN, Smirnov VM, Meliutcheva LA, Shandurina AN
Confin Neurol 1975;37(1-3):136-40. doi: 10.1159/000102727. PMID: 1093777

Recent clinical studies

Etiology

Jellinger KA
J Neural Transm (Vienna) 2022 Jun;129(5-6):521-543. Epub 2021 Aug 7 doi: 10.1007/s00702-021-02392-2. PMID: 34363531
Dannug AT, Gabriel FGC, Macias MCYL, Diesta CCE
Parkinsonism Relat Disord 2021 Jun;87:92-97. Epub 2021 May 6 doi: 10.1016/j.parkreldis.2021.04.026. PMID: 34015695
Abejero JEE, Jamora RDG, Vesagas TS, Teleg RA, Rosales RL, Anlacan JP, Velasquez MS, Aguilar JA
Parkinsonism Relat Disord 2019 Mar;60:81-86. Epub 2018 Sep 21 doi: 10.1016/j.parkreldis.2018.09.022. PMID: 30262378
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Kang UJ, Burke RE, Fahn S
Adv Neurol 1988;50:415-29. PMID: 3400500

Diagnosis

Jellinger KA
J Neural Transm (Vienna) 2022 Jun;129(5-6):521-543. Epub 2021 Aug 7 doi: 10.1007/s00702-021-02392-2. PMID: 34363531
Hutchinson M, Kimmich O, Molloy A, Whelan R, Molloy F, Lynch T, Healy DG, Walsh C, Edwards MJ, Ozelius L, Reilly RB, O'Riordan S
Mov Disord 2013 Nov;28(13):1766-74. Epub 2013 Oct 9 doi: 10.1002/mds.25676. PMID: 24108447
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160
Wang XZ, Zhong N
Beijing Da Xue Xue Bao Yi Xue Ban 2006 Feb 18;38(1):107-9. PMID: 16415980
Greene P, Kang UJ, Fahn S
Mov Disord 1995 Mar;10(2):143-52. doi: 10.1002/mds.870100204. PMID: 7753056

Therapy

Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Lindeboom R, Brans JW, Aramideh M, Speelman HD, De Haan RJ
Mov Disord 1998 Jul;13(4):706-12. doi: 10.1002/mds.870130417. PMID: 9686779
Kang UJ, Burke RE, Fahn S
Adv Neurol 1988;50:415-29. PMID: 3400500
LeWitt PA, Miller LP, Levine RA, Lovenberg W, Newman RP, Papavasiliou A, Rayes A, Eldridge R, Burns RS
Neurology 1986 Jun;36(6):760-4. doi: 10.1212/wnl.36.6.760. PMID: 3703282
Rosin AJ, Sahar A, Michaeli Y
Eur Neurol 1978;17(6):363-7. doi: 10.1159/000114975. PMID: 369865

Prognosis

Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J
Genes (Basel) 2022 Jan 11;13(1) doi: 10.3390/genes13010126. PMID: 35052466Free PMC Article
Abejero JEE, Jamora RDG, Vesagas TS, Teleg RA, Rosales RL, Anlacan JP, Velasquez MS, Aguilar JA
Parkinsonism Relat Disord 2019 Mar;60:81-86. Epub 2018 Sep 21 doi: 10.1016/j.parkreldis.2018.09.022. PMID: 30262378
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160
Kang UJ, Burke RE, Fahn S
Adv Neurol 1988;50:415-29. PMID: 3400500

Clinical prediction guides

Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J
Genes (Basel) 2022 Jan 11;13(1) doi: 10.3390/genes13010126. PMID: 35052466Free PMC Article
Dannug AT, Gabriel FGC, Macias MCYL, Diesta CCE
Parkinsonism Relat Disord 2021 Jun;87:92-97. Epub 2021 May 6 doi: 10.1016/j.parkreldis.2021.04.026. PMID: 34015695
Abejero JEE, Jamora RDG, Vesagas TS, Teleg RA, Rosales RL, Anlacan JP, Velasquez MS, Aguilar JA
Parkinsonism Relat Disord 2019 Mar;60:81-86. Epub 2018 Sep 21 doi: 10.1016/j.parkreldis.2018.09.022. PMID: 30262378
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Kang UJ, Burke RE, Fahn S
Adv Neurol 1988;50:415-29. PMID: 3400500

Recent systematic reviews

Taiwo FT, Adebayo PB
Brain Behav 2023 Jun;13(6):e3023. Epub 2023 May 11 doi: 10.1002/brb3.3023. PMID: 37165749Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article

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