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Dystonia 23(DYT23)

MedGen UID:
761274
Concept ID:
C3538999
Disease or Syndrome
Synonym: DYT23
SNOMED CT: Adult-onset cervical dystonia DYT23 type (783242003); Dystonia 23 (783242003)
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:0013928
OMIM®: 614860
Orphanet: ORPHA420492

Definition

A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor. [from SNOMEDCT_US]

Clinical features

From HPO
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
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.
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
The term gait disturbance can refer to any disruption of the ability to walk.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
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.
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.
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  
  • CROGVDystonia 23

Professional guidelines

PubMed

Yoshida K
Clin Oral Investig 2019 Jan;23(1):405-411. Epub 2018 May 2 doi: 10.1007/s00784-018-2449-3. PMID: 29717363
Giagkou N, Stamelou M
CNS Drugs 2018 Sep;32(9):827-837. doi: 10.1007/s40263-018-0551-3. PMID: 30051337
Carenzio G, Carlisi E, Morani I, Tinelli C, Barak M, Bejor M, Dalla Toffola E
Eur J Phys Rehabil Med 2015 Oct;51(5):539-45. Epub 2015 Feb 18 PMID: 25692687

Recent clinical studies

Etiology

Dai S, Chen H, Luo T
BMC Pregnancy Childbirth 2023 Oct 28;23(1):761. doi: 10.1186/s12884-023-06059-6. PMID: 37898733Free PMC Article
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
Wimalasundera N, Stevenson VL
Pract Neurol 2016 Jun;16(3):184-94. Epub 2016 Feb 2 doi: 10.1136/practneurol-2015-001184. PMID: 26837375
Hartung B, Sampson S, Leucht S
Cochrane Database Syst Rev 2015 Mar 6;2015(3):CD003443. doi: 10.1002/14651858.CD003443.pub3. PMID: 25749632Free PMC Article
Carenzio G, Carlisi E, Morani I, Tinelli C, Barak M, Bejor M, Dalla Toffola E
Eur J Phys Rehabil Med 2015 Oct;51(5):539-45. Epub 2015 Feb 18 PMID: 25692687

Diagnosis

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free PMC Article
Ismail FY, Fatemi A, Johnston MV
Eur J Paediatr Neurol 2017 Jan;21(1):23-48. Epub 2016 Aug 9 doi: 10.1016/j.ejpn.2016.07.007. PMID: 27567276
Wimalasundera N, Stevenson VL
Pract Neurol 2016 Jun;16(3):184-94. Epub 2016 Feb 2 doi: 10.1136/practneurol-2015-001184. PMID: 26837375
Chouinard G, Margolese HC
Schizophr Res 2005 Jul 15;76(2-3):247-65. Epub 2005 Apr 18 doi: 10.1016/j.schres.2005.02.013. PMID: 15949657
Bressman SB
Clin Neuropharmacol 2000 Sep-Oct;23(5):239-51. doi: 10.1097/00002826-200009000-00002. PMID: 11154091

Therapy

Dai S, Chen H, Luo T
BMC Pregnancy Childbirth 2023 Oct 28;23(1):761. doi: 10.1186/s12884-023-06059-6. PMID: 37898733Free PMC Article
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;2015(3):CD003443. doi: 10.1002/14651858.CD003443.pub3. PMID: 25749632Free PMC Article
Bressman SB
Clin Neuropharmacol 2000 Sep-Oct;23(5):239-51. doi: 10.1097/00002826-200009000-00002. PMID: 11154091
Hansen TE, Casey DE, Hoffman WF
Schizophr Bull 1997;23(4):567-82. doi: 10.1093/schbul/23.4.567. PMID: 9365996

Prognosis

Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Herr T, Hummel T, Vollmer M, Willert C, Veit B, Gamain J, Fleischmann R, Lehnert B, Mueller JU, Stenner A, Kronenbuerger M
J Neural Transm (Vienna) 2020 Mar;127(3):347-354. Epub 2020 Feb 15 doi: 10.1007/s00702-020-02156-4. PMID: 32062706Free PMC Article
Wimalasundera N, Stevenson VL
Pract Neurol 2016 Jun;16(3):184-94. Epub 2016 Feb 2 doi: 10.1136/practneurol-2015-001184. PMID: 26837375
Peckham EL, Hallett M
Neurol Clin 2009 Aug;27(3):801-19, vii. doi: 10.1016/j.ncl.2009.04.008. PMID: 19555832Free PMC Article
Vernon GM
J Neurosci Nurs 1991 Jun;23(3):183-7. doi: 10.1097/01376517-199106000-00010. PMID: 1831484

Clinical prediction guides

Comella CL, Jankovic J, Hauser RA, Patel AT, Banach MD, Ehler E, Vitarella D, Rubio RG, Gross TM; ASPEN-1 Study Group
Neurology 2024 Feb 27;102(4):e208091. Epub 2024 Jan 31 doi: 10.1212/WNL.0000000000208091. PMID: 38295339Free PMC Article
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free PMC Article
Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
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
Wimalasundera N, Stevenson VL
Pract Neurol 2016 Jun;16(3):184-94. Epub 2016 Feb 2 doi: 10.1136/practneurol-2015-001184. PMID: 26837375

Recent systematic reviews

Dai S, Chen H, Luo T
BMC Pregnancy Childbirth 2023 Oct 28;23(1):761. doi: 10.1186/s12884-023-06059-6. PMID: 37898733Free PMC Article
Abdelmonem H, Abdelhay HM, Abdelwadoud GT, Alhosini ANM, Ahmed AE, Mohamed SW, Al-Dardery NM, Abd-ElGawad M, Kamel MA
BMC Neurol 2023 Jun 8;23(1):221. doi: 10.1186/s12883-023-03259-7. PMID: 37291500Free PMC Article
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
Boelig RC, Barton SJ, Saccone G, Kelly AJ, Edwards SJ, Berghella V
Cochrane Database Syst Rev 2016 May 11;2016(5):CD010607. doi: 10.1002/14651858.CD010607.pub2. PMID: 27168518Free PMC Article
Hartung B, Sampson S, Leucht S
Cochrane Database Syst Rev 2015 Mar 6;2015(3):CD003443. doi: 10.1002/14651858.CD003443.pub3. PMID: 25749632Free PMC Article

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