DYT23
MCID: DYS145
MIFTS: 32

Dystonia 23 (DYT23)

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

Aliases & Classifications for Dystonia 23

MalaCards integrated aliases for Dystonia 23:

Name: Dystonia 23 56 12 58 73 29 13 6 71
Dyt23 56 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:

56
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 56 614860
OMIM Phenotypic Series 56 PS128100
MeSH 43 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 torsion dystonia 4, and has symptoms including myoclonus, torticollis and dystonia, limb. An important gene associated with Dystonia 23 is DYT23 (Dystonia 23). Affiliated tissues include eye, and 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 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
4 writer's cramp 58 31 frequent (33%) Frequent (79-30%) HP:0002356
5 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
6 head tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002346
7 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
8 axial dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002530
9 limb tremor 58 31 frequent (33%) Frequent (79-30%) HP:0200085
10 neck muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012893
11 cerebral cortical atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002120
12 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
13 cerebellar atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001272
14 panic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0025269
15 hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002883
16 arrhythmia 31 occasional (7.5%) HP:0011675
17 gait disturbance 31 HP:0001288
18 focal dystonia 58 Frequent (79-30%)
19 limb dystonia 31 HP:0002451
20 craniofacial dystonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Voice:
dysphonia

Skeletal Hands:
writer's cramp

Head And Neck Face:
facial dystonia

Head And Neck Head:
head tremor (variable)

Skeletal Feet:
dystonic foot posturing

Neurologic Central Nervous System:
myoclonus
limb dystonia
axial dystonia
cervical dystonia
gait difficulties
more
Head And Neck Neck:
torticollis
cervical dystonia
hypertrophy of the sternocleidomastoid muscle

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

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

MalaCards organs/tissues related to Dystonia 23:

40
Eye

Publications for Dystonia 23

Articles related to Dystonia 23:

(show all 20)
# Title Authors PMID Year
1
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 56 6
25296916 2015
2
A new familial syndrome with dystonia and lower limb action myoclonus. 56 6
21370267 2011
3
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. 6
26157024 2015
4
Mutations in CIZ1 cause adult onset primary cervical dystonia. 56
22447717 2012
5
Hereditary Dystonia Overview 6
20301334 2003
6
Primary torsion dystonia: the search for genes is not over. 56
10449567 1999
7
Adult onset familial cervical dystonia: report of a family including monozygotic twins. 56
8232359 1993
8
Motor phenotypes and molecular networks associated with germline deficiency of Ciz1. 61
27163549 2016
9
Diagnosis and Management of Dystonia. 61
27495206 2016
10
High prevalence of primary focal dystonia in the Faroe Islands. 61
26041438 2016
11
Recent advances in the genetics of dystonia. 61
24952478 2014
12
Genetics in dystonia. 61
24262166 2014
13
Dystonia. 61
24092288 2013
14
Genetics of dystonia: what's known? What's new? What's next? 61
23893446 2013
15
Movement disorders in adult patients with classical galactosemia. 61
23400815 2013
16
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
17
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. 61
23200863 2012
18
Long-term experience with intraoperative microrecording during DBS neurosurgery in STN and GPi. 61
20949292 2010
19
The Symptom Checklist-90 Revised questionnaire: no psychological profiles in complex regional pain syndrome-dystonia. 61
10355214 1999
20
Cerebrospinal fluid homovanillic acid is reduced in untreated Huntington's disease. 61
8665535 1995

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 9:140972569-140972569 9:138078117-138078117

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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