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Torsion dystonia 6(DYT6)

MedGen UID:
236274
Concept ID:
C1414216
Disease or Syndrome
Synonyms: Dystonia 6; DYT-THAP1; DYT6; Torsion dystonia adult onset mixed type
SNOMED CT: Dystonia 6 (702448007); THAP1 dystonia (702448007); Torsion dystonia 6 (702448007); Idiopathic torsion dystonia of mixed type (702448007); Primary dystonia, DYT6 type (702448007)
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.
 
Gene (location): THAP1 (8p11.21)
 
Monarch Initiative: MONDO:0011264
OMIM®: 602629
Orphanet: ORPHA98806

Definition

Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene. [from OMIM]

Additional description

From MedlinePlus Genetics
Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18.

The signs and symptoms of dystonia 6 vary among affected individuals. The disorder usually first impacts muscles of the head and neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of one or more limbs is common, and in some cases occurs before the head and neck problems. Dystonia 6 gradually gets worse, and it may eventually involve most of the body.  https://medlineplus.gov/genetics/condition/dystonia-6

Clinical features

From HPO
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Torsion dystonia
MedGen UID:
3941
Concept ID:
C0013423
Disease or Syndrome
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
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).
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.
Laryngeal dystonia
MedGen UID:
409603
Concept ID:
C1963946
Disease or Syndrome
A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.
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.
Lingual dystonia
MedGen UID:
1377034
Concept ID:
C2242579
Sign or Symptom
Involuntary protrusions, movements, spams and contortions of the tongue.
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTorsion dystonia 6
Follow this link to review classifications for Torsion dystonia 6 in Orphanet.

Professional guidelines

PubMed

Carbon M, Su S, Dhawan V, Raymond D, Bressman S, Eidelberg D
Neurology 2004 Apr 27;62(8):1384-90. doi: 10.1212/01.wnl.0000120541.97467.fe. PMID: 15111678
Bressman SB
Rev Neurol (Paris) 2003 Oct;159(10 Pt 1):849-56. PMID: 14628853
Marsden CD, Marion MH, Quinn N
J Neurol Neurosurg Psychiatry 1984 Nov;47(11):1166-73. doi: 10.1136/jnnp.47.11.1166. PMID: 6502174Free PMC Article

Recent clinical studies

Etiology

Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH
Mov Disord 2022 Jan;37(1):130-136. Epub 2021 Sep 28 doi: 10.1002/mds.28801. PMID: 34582053
Lane V, Lane M, Sturrock A, Rickards H
J Neuropsychiatry Clin Neurosci 2021 Fall;33(4):295-306. Epub 2021 Jul 19 doi: 10.1176/appi.neuropsych.20110293. PMID: 34280321
Brooks JT, Bomar JD, Jeffords ME, Farnsworth CL, Pennock AT, Upasani VV
J Pediatr Orthop 2021 Jan;41(1):33-39. doi: 10.1097/BPO.0000000000001700. PMID: 33055518
Bressman SB
Rev Neurol (Paris) 2003 Oct;159(10 Pt 1):849-56. PMID: 14628853
Korczyn AD, Inzelberg R
Curr Opin Neurol Neurosurg 1993 Jun;6(3):350-7. PMID: 8507905

Diagnosis

Song SA, Go CL, Acuna PB, De Guzman JKP, Sharma N, Song PC
J Voice 2023 Jan;37(1):134-138. Epub 2020 Dec 14 doi: 10.1016/j.jvoice.2020.11.014. PMID: 33334627Free PMC Article
Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH
Mov Disord 2022 Jan;37(1):130-136. Epub 2021 Sep 28 doi: 10.1002/mds.28801. PMID: 34582053
Lane V, Lane M, Sturrock A, Rickards H
J Neuropsychiatry Clin Neurosci 2021 Fall;33(4):295-306. Epub 2021 Jul 19 doi: 10.1176/appi.neuropsych.20110293. PMID: 34280321
Brooks JT, Bomar JD, Jeffords ME, Farnsworth CL, Pennock AT, Upasani VV
J Pediatr Orthop 2021 Jan;41(1):33-39. doi: 10.1097/BPO.0000000000001700. PMID: 33055518
Bressman SB
Rev Neurol (Paris) 2003 Oct;159(10 Pt 1):849-56. PMID: 14628853

Therapy

Jamora RDG, Khu KJO, Sy MCC, Pascual JSG, Legaspi GD, Aguilar JA
BMC Neurol 2023 Aug 18;23(1):306. doi: 10.1186/s12883-023-03344-x. PMID: 37596524Free PMC Article
Fox MD, Alterman RL
JAMA Neurol 2015 Jun;72(6):713-9. doi: 10.1001/jamaneurol.2015.51. PMID: 25894231Free PMC Article
Marsden CD, Marion MH, Quinn N
J Neurol Neurosurg Psychiatry 1984 Nov;47(11):1166-73. doi: 10.1136/jnnp.47.11.1166. PMID: 6502174Free PMC Article
Wachtel RC, Batshaw ML, Eldridge R, Jankel W, Cataldo M
Johns Hopkins Med J 1982 Dec;151(6):355-61. PMID: 7176296
Rosin AJ, Sahar A, Michaeli Y
Eur Neurol 1978;17(6):363-7. doi: 10.1159/000114975. PMID: 369865

Prognosis

Ramezani Ghamsari M, Ghourchian S, Emamikhah M, Safdarian M, Shahidi G, Parvaresh M, Moghaddasi M, Habibi SAH, Munhoz RP, Rohani M
Clin Neurol Neurosurg 2021 Feb;201:106449. Epub 2020 Dec 28 doi: 10.1016/j.clineuro.2020.106449. PMID: 33395620
Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C
JAMA Neurol 2019 Feb 1;76(2):211-216. doi: 10.1001/jamaneurol.2018.3777. PMID: 30508028Free PMC Article
Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N
Brain 2018 Oct 1;141(10):2995-3008. doi: 10.1093/brain/awy222. PMID: 30169601
Segawa M, Nomura Y
Semin Neurol 2014 Jul;34(3):306-11. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386768. PMID: 25192508
Wachtel RC, Batshaw ML, Eldridge R, Jankel W, Cataldo M
Johns Hopkins Med J 1982 Dec;151(6):355-61. PMID: 7176296

Clinical prediction guides

Iacono D, Peng H, Rabin ML, Kurlan R
J Neuropathol Exp Neurol 2023 Jul 20;82(8):695-706. doi: 10.1093/jnen/nlad044. PMID: 37352388
Cheng F, Zheng W, Barbuti PA, Bonsi P, Liu C, Casadei N, Ponterio G, Meringolo M, Admard J, Dording CM, Yu-Taeger L, Nguyen HP, Grundmann-Hauser K, Ott T, Houlden H, Pisani A, Krüger R, Riess O
Brain 2022 Nov 21;145(11):3968-3984. doi: 10.1093/brain/awac001. PMID: 35015830
Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH
Mov Disord 2022 Jan;37(1):130-136. Epub 2021 Sep 28 doi: 10.1002/mds.28801. PMID: 34582053
Brooks JT, Bomar JD, Jeffords ME, Farnsworth CL, Pennock AT, Upasani VV
J Pediatr Orthop 2021 Jan;41(1):33-39. doi: 10.1097/BPO.0000000000001700. PMID: 33055518
Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C
JAMA Neurol 2019 Feb 1;76(2):211-216. doi: 10.1001/jamaneurol.2018.3777. PMID: 30508028Free PMC Article

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
Lane V, Lane M, Sturrock A, Rickards H
J Neuropsychiatry Clin Neurosci 2021 Fall;33(4):295-306. Epub 2021 Jul 19 doi: 10.1176/appi.neuropsych.20110293. PMID: 34280321
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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