DYT23
MCID: DYS145
MIFTS: 33

Dystonia 23 (DYT23)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dystonia 23

MalaCards integrated aliases for Dystonia 23:

Name: Dystonia 23 57 12 58 73 29 13 6 15 71
Dyt23 57 58 73
Adult-Onset Cervical Dystonia, Dyt23 Type 58
Dystonia, Type 23 39

Characteristics:

Orphanet epidemiological data:

58
adult-onset cervical dystonia, dyt23 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
variable age at onset
myoclonus occurs at rest and with action
one family with a cacna1b mutation has been reported (last curated march 2015)


HPO:

31
dystonia 23:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090051
OMIM® 57 614860
OMIM Phenotypic Series 57 PS128100
MeSH 44 D004421
ICD10 32 G24.8
ICD10 via Orphanet 33 G24.8
Orphanet 58 ORPHA420492
UMLS 71 C3538999

Summaries for Dystonia 23

UniProtKB/Swiss-Prot : 73 Dystonia 23: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia.

MalaCards based summary : Dystonia 23, also known as dyt23, is related to dystonia and spasmodic dystonia, and has symptoms including myoclonus, torticollis and dystonia, limb. An important gene associated with Dystonia 23 is DYT23 (Dystonia 23). Related phenotypes are dysphonia and myoclonus

Disease Ontology : 12 A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has material basis in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34.

More information from OMIM: 614860 PS128100

Related Diseases for Dystonia 23

Graphical network of the top 20 diseases related to Dystonia 23:



Diseases related to Dystonia 23

Symptoms & Phenotypes for Dystonia 23

Human phenotypes related to Dystonia 23:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphonia 58 31 frequent (33%) Frequent (79-30%) HP:0001618
2 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
3 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
4 head tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002346
5 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
6 axial dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002530
7 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
8 writer's cramp 58 31 frequent (33%) Frequent (79-30%) HP:0002356
9 neck muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012893
10 limb tremor 58 31 frequent (33%) Frequent (79-30%) HP:0200085
11 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
12 cerebral cortical atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002120
13 cerebellar atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001272
14 hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002883
15 panic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0025269
16 arrhythmia 31 occasional (7.5%) HP:0011675
17 gait disturbance 31 HP:0001288
18 limb dystonia 31 HP:0002451
19 craniofacial dystonia 58 Frequent (79-30%)
20 focal dystonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Voice:
dysphonia

Head And Neck Neck:
torticollis
cervical dystonia
hypertrophy of the sternocleidomastoid muscle

Head And Neck Face:
facial dystonia

Head And Neck Head:
head tremor (variable)

Skeletal Feet:
dystonic foot posturing

Neurologic Central Nervous System:
myoclonus
axial dystonia
limb dystonia
cervical dystonia
gait difficulties
more
Skeletal Hands:
writer's cramp

Cardiovascular Heart:
arrhythmias (in some patients)

Skeletal Limbs:
cramping of the limbs

Neurologic Behavioral Psychiatric Manifestations:
panic attacks (in some patients)
hyperventilation syndrome (in some patients)

Clinical features from OMIM®:

614860 (Updated 05-Mar-2021)

UMLS symptoms related to Dystonia 23:


myoclonus, torticollis, dystonia, limb, limb cramp, cervical dystonia

Drugs & Therapeutics for Dystonia 23

Search Clinical Trials , NIH Clinical Center for Dystonia 23

Genetic Tests for Dystonia 23

Genetic tests related to Dystonia 23:

# Genetic test Affiliating Genes
1 Dystonia 23 29

Anatomical Context for Dystonia 23

Publications for Dystonia 23

Articles related to Dystonia 23:

(show all 17)
# Title Authors PMID Year
1
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 57
25296916 2015
2
Mutations in CIZ1 cause adult onset primary cervical dystonia. 57
22447717 2012
3
A new familial syndrome with dystonia and lower limb action myoclonus. 57
21370267 2011
4
Primary torsion dystonia: the search for genes is not over. 57
10449567 1999
5
Adult onset familial cervical dystonia: report of a family including monozygotic twins. 57
8232359 1993
6
Motor phenotypes and molecular networks associated with germline deficiency of Ciz1. 61
27163549 2016
7
Diagnosis and Management of Dystonia. 61
27495206 2016
8
High prevalence of primary focal dystonia in the Faroe Islands. 61
26041438 2016
9
Recent advances in the genetics of dystonia. 61
24952478 2014
10
Genetics in dystonia. 61
24262166 2014
11
Dystonia. 61
24092288 2013
12
Genetics of dystonia: what's known? What's new? What's next? 61
23893446 2013
13
Movement disorders in adult patients with classical galactosemia. 61
23400815 2013
14
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
15
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. 61
23200863 2012
16
Long-term experience with intraoperative microrecording during DBS neurosurgery in STN and GPi. 61
20949292 2010
17
The Symptom Checklist-90 Revised questionnaire: no psychological profiles in complex regional pain syndrome-dystonia. 61
10355214 1999

Variations for Dystonia 23

ClinVar genetic disease variations for Dystonia 23:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1B NM_000718.4(CACNA1B):c.4166G>A (p.Arg1389His) SNV Uncertain significance 189196 rs184841813 9:140952560-140952560 9:138058108-138058108
2 CACNA1B NM_000718.4(CACNA1B):c.5233A>G (p.Ser1745Gly) SNV Uncertain significance 522740 rs1554758384 9:140997173-140997173 9:138102721-138102721
3 CACNA1B NM_000718.4(CACNA1B):c.4953C>A (p.Ser1651Arg) SNV Uncertain significance 638439 rs200540820 9:140972569-140972569 9:138078117-138078117
4 CACNA1B NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=) SNV Likely benign 797749 rs201383337 9:141016271-141016271 9:138121819-138121819

Expression for Dystonia 23

Search GEO for disease gene expression data for Dystonia 23.

Pathways for Dystonia 23

GO Terms for Dystonia 23

Sources for Dystonia 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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