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Dystonia 23(DYT23)

MedGen UID:
761274
Concept ID:
C3538999
Disease or Syndrome
Synonyms: DYT23
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 614860
Orphanet: ORPHA420492

Clinical features

From HPO
Arrhythmia
MedGen UID:
167788
Concept ID:
C0855329
Finding
An electrocardiographic finding of a change in cardiac electrical activity.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
A rapid, involuntary jerk of a muscle or group of muscles.
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.
Head tremor
MedGen UID:
68690
Concept ID:
C0239882
Finding
An unintentional, oscillating to-and-fro muscle movement affecting head movement.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
A finding referring to walking difficulties.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Atrophy (wasting) of the cerebellum.
Limb dystonia
MedGen UID:
152944
Concept ID:
C0751093
Sign or Symptom
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
A speech disorder resulting in impaired utterance of sounds by the vocal folds.
Axial dystonia
MedGen UID:
373027
Concept ID:
C1836149
Finding
A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
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).
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
A speech disorder resulting in impaired utterance of sounds by the vocal folds.
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDystonia 23

Recent clinical studies

Etiology

Yang CC, Wang WC, Yeh TH, Chen TH, Liu YL, Lu MK, Lu CS, Tsai CH
Clin Neurol Neurosurg 2018 Feb;165:21-23. Epub 2017 Dec 26 doi: 10.1016/j.clineuro.2017.12.018. PMID: 29289916
Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J
Neurogenetics 2017 Dec;18(4):195-205. Epub 2017 Aug 28 doi: 10.1007/s10048-017-0521-9. PMID: 28849312
Joensen P
Acta Neurol Scand 2016 Jan;133(1):55-60. Epub 2015 Jun 4 doi: 10.1111/ane.12438. PMID: 26041438
Meoni S, Zurowski M, Lozano AM, Hodaie M, Poon YY, Fallis M, Voon V, Moro E
Neurology 2015 Aug 4;85(5):433-40. Epub 2015 Jul 8 doi: 10.1212/WNL.0000000000001811. PMID: 26156506Free PMC Article
Lin JP, Lumsden DE, Gimeno H, Kaminska M
J Neurol Neurosurg Psychiatry 2014 Nov;85(11):1239-44. Epub 2014 Mar 3 doi: 10.1136/jnnp-2013-307041. PMID: 24591458

Diagnosis

Yang CC, Wang WC, Yeh TH, Chen TH, Liu YL, Lu MK, Lu CS, Tsai CH
Clin Neurol Neurosurg 2018 Feb;165:21-23. Epub 2017 Dec 26 doi: 10.1016/j.clineuro.2017.12.018. PMID: 29289916
Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J
Neurogenetics 2017 Dec;18(4):195-205. Epub 2017 Aug 28 doi: 10.1007/s10048-017-0521-9. PMID: 28849312
Joensen P
Acta Neurol Scand 2016 Jan;133(1):55-60. Epub 2015 Jun 4 doi: 10.1111/ane.12438. PMID: 26041438
Meoni S, Zurowski M, Lozano AM, Hodaie M, Poon YY, Fallis M, Voon V, Moro E
Neurology 2015 Aug 4;85(5):433-40. Epub 2015 Jul 8 doi: 10.1212/WNL.0000000000001811. PMID: 26156506Free PMC Article
Lin JP, Lumsden DE, Gimeno H, Kaminska M
J Neurol Neurosurg Psychiatry 2014 Nov;85(11):1239-44. Epub 2014 Mar 3 doi: 10.1136/jnnp-2013-307041. PMID: 24591458

Therapy

Yang CC, Wang WC, Yeh TH, Chen TH, Liu YL, Lu MK, Lu CS, Tsai CH
Clin Neurol Neurosurg 2018 Feb;165:21-23. Epub 2017 Dec 26 doi: 10.1016/j.clineuro.2017.12.018. PMID: 29289916
Kägi G, Ruge D, Brugger F, Katschnig P, Sauter R, Fiorio M, Tinazzi M, Rothwell J, Bhatia KP
Clin Neurophysiol 2017 Jul;128(7):1142-1147. Epub 2017 Apr 23 doi: 10.1016/j.clinph.2017.04.007. PMID: 28511126
Kaminska M, Perides S, Lumsden DE, Nakou V, Selway R, Ashkan K, Lin JP
Eur J Paediatr Neurol 2017 Jan;21(1):168-175. Epub 2016 Aug 3 doi: 10.1016/j.ejpn.2016.07.024. PMID: 27567277
Rosset-Llobet J, Fàbregas-Molas S, Pascual-Leone Á
Med Probl Perform Art 2015 Sep;30(3):178-84. doi: 10.21091/mppa.2015.3033. PMID: 26395620
Cai C, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD
PLoS One 2013;8(6):e65215. Epub 2013 Jun 6 doi: 10.1371/journal.pone.0065215. PMID: 23762320Free PMC Article

Prognosis

Tustin K, Elze MC, Lumsden DE, Gimeno H, Kaminska M, Lin JP
Eur J Paediatr Neurol 2019 May;23(3):473-483. Epub 2019 Feb 21 doi: 10.1016/j.ejpn.2019.02.005. PMID: 30846371
Rosset-Llobet J, Fàbregas-Molas S, Pascual-Leone Á
Med Probl Perform Art 2015 Sep;30(3):178-84. doi: 10.21091/mppa.2015.3033. PMID: 26395620
Meoni S, Zurowski M, Lozano AM, Hodaie M, Poon YY, Fallis M, Voon V, Moro E
Neurology 2015 Aug 4;85(5):433-40. Epub 2015 Jul 8 doi: 10.1212/WNL.0000000000001811. PMID: 26156506Free PMC Article
Lin JP, Lumsden DE, Gimeno H, Kaminska M
J Neurol Neurosurg Psychiatry 2014 Nov;85(11):1239-44. Epub 2014 Mar 3 doi: 10.1136/jnnp-2013-307041. PMID: 24591458
Ibrahim NM, Martino D, van de Warrenburg BP, Quinn NP, Bhatia KP, Brown RJ, Trimble M, Schrag A
Parkinsonism Relat Disord 2009 Sep;15(8):592-7. Epub 2009 May 12 doi: 10.1016/j.parkreldis.2009.02.010. PMID: 19442561

Clinical prediction guides

Tustin K, Elze MC, Lumsden DE, Gimeno H, Kaminska M, Lin JP
Eur J Paediatr Neurol 2019 May;23(3):473-483. Epub 2019 Feb 21 doi: 10.1016/j.ejpn.2019.02.005. PMID: 30846371
Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J
Neurogenetics 2017 Dec;18(4):195-205. Epub 2017 Aug 28 doi: 10.1007/s10048-017-0521-9. PMID: 28849312
Rosset-Llobet J, Fàbregas-Molas S, Pascual-Leone Á
Med Probl Perform Art 2015 Sep;30(3):178-84. doi: 10.21091/mppa.2015.3033. PMID: 26395620
van Vugt FT, Boullet L, Jabusch HC, Altenmüller E
Parkinsonism Relat Disord 2014 Jan;20(1):8-12. Epub 2013 Aug 30 doi: 10.1016/j.parkreldis.2013.08.009. PMID: 24055013
Ibrahim NM, Martino D, van de Warrenburg BP, Quinn NP, Bhatia KP, Brown RJ, Trimble M, Schrag A
Parkinsonism Relat Disord 2009 Sep;15(8):592-7. Epub 2009 May 12 doi: 10.1016/j.parkreldis.2009.02.010. PMID: 19442561

Recent systematic reviews

Boelig RC, Barton SJ, Saccone G, Kelly AJ, Edwards SJ, Berghella V
J Matern Fetal Neonatal Med 2018 Sep;31(18):2492-2505. Epub 2017 Jul 11 doi: 10.1080/14767058.2017.1342805. PMID: 28614956
Hartung B, Sampson S, Leucht S
Cochrane Database Syst Rev 2015 Mar 6;(3):CD003443. doi: 10.1002/14651858.CD003443.pub3. PMID: 25749632
Adams CE, Bergman H, Irving CB, Lawrie S
Cochrane Database Syst Rev 2013 Nov 15;(11):CD003082. doi: 10.1002/14651858.CD003082.pub3. PMID: 24242360
Liu X, De Haan S
Cochrane Database Syst Rev 2009 Apr 15;(2):CD007778. doi: 10.1002/14651858.CD007778. PMID: 19370692
Costa J, Espírito-Santo C, Borges A, Ferreira JJ, Coelho M, Moore P, Sampaio C
Cochrane Database Syst Rev 2005 Jan 25;(1):CD004315. doi: 10.1002/14651858.CD004315.pub2. PMID: 15674941

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