Cervical Dystonia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CRV043 MIFTS: 46	Cervical Dystonia Categories: Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

Sources

Aliases & Classifications for Cervical Dystonia

MalaCards integrated aliases for Cervical Dystonia:

Name: Cervical Dystonia ¹² ⁵³ ³⁷ ¹⁵

Spasmodic Torticollis ¹² ⁷⁶ ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Extrapyramidal and movement disorders

Dystonia

Spasmodic torticollis

External Ids:

Disease Ontology ¹² DOID:0050840

KEGG ³⁷ H01608

ICD10 ³³ G24.3

Sources

Summaries for Cervical Dystonia

NIH Rare Diseases : ⁵³ Cervical dystoniais a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia). Most commonly, the head turns to one side or the other. Tilting sideways, or to the back or front may also occur. The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders. Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics, physical therapy, or surgery.

MalaCards based summary : Cervical Dystonia, also known as spasmodic torticollis, is related to dystonia 24 and dystonia 11, myoclonic. An important gene associated with Cervical Dystonia is CIZ1 (CDKN1A Interacting Zinc Finger Protein 1), and among its related pathways/superpathways are ICos-ICosL Pathway in T-Helper Cell and Tuberculosis. The drugs Acetylcholine and Acetylcholine Release Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and subthalamic nucleus, and related phenotypes are behavior/neurological and mortality/aging

Disease Ontology : ¹² A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.

Wikipedia : ⁷⁶ Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to... more...

Sources

Related Diseases for Cervical Dystonia

Diseases related to Cervical Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)

#	Related Disease	Score	Top Affiliating Genes
1	dystonia 24	31.8	THAP1 TOR1A
2	dystonia 11, myoclonic	31.4	CAMP GCH1 THAP1 TOR1A
3	dystonia	31.1	CIZ1 DRD5 GCH1 GNAL THAP1 TOR1A
4	torticollis	30.6	CIZ1 TOR1A
5	spasmodic dysphonia	30.0	THAP1 TOR1A
6	blepharospasm	29.8	CAMP DRD5 GCH1 GNAL THAP1 TOR1A
7	focal hand dystonia	29.3	CAMP DRD5 THAP1 TOR1A
8	spasmodic dystonia	29.2	CAMP GNAL THAP1 TOR1A
9	lymphedema, hereditary, ii	29.0	CAMP DRD5 GCH1 THAP1 TOR1A
10	focal dystonia	28.4	CAMP CDIP1 CIZ1 DRD5 GNAL THAP1
11	dystonia 23	11.7
12	torticollis, familial	11.7
13	leukoencephalopathy with dystonia and motor neuropathy	11.5
14	x-linked dystonia-parkinsonism/lubag	11.2
15	dystonia 4, torsion, autosomal dominant	11.1
16	dystonia 7, torsion	11.1
17	torsion dystonia 4	11.1
18	adolescent-onset dystonia of mixed type	11.1
19	benign paroxysmal torticollis of infancy	10.4
20	tremor	10.4
21	alexithymia	10.2
22	social phobia	10.2
23	neuropathy	10.2
24	autosomal dominant cerebellar ataxia	10.2
25	essential tremor	10.2
26	achalasia, familial esophageal	10.2	HLA-DQA1 HLA-DQB1
27	beryllium disease	10.1	HLA-DQA1 HLA-DQB1
28	dysphagia	10.1
29	idiopathic bronchiectasis	10.1	HLA-DQA1 HLA-DQB1
30	congenital toxoplasmosis	10.1	HLA-DQA1 HLA-DQB1
31	acute disseminated encephalomyelitis	10.1	HLA-DQA1 HLA-DQB1
32	oligoarticular juvenile idiopathic arthritis	10.1	HLA-DQA1 HLA-DQB1
33	endometritis	10.1	HLA-DQA1 HLA-DQB1
34	immunoglobulin alpha deficiency	10.1	HLA-DQB1 TOR1A
35	headache	10.1
36	hemifacial spasm	10.1
37	tardive dyskinesia	10.1
38	anxiety	10.1
39	thrombosis	10.1
40	thoracic outlet syndrome	10.1
41	neurotic disorder	10.1
42	acquired immunodeficiency syndrome	10.1
43	narcolepsy	10.1
44	athetosis	10.1
45	cytomegalovirus infection	10.1
46	head injury	10.1
47	thiamine metabolism dysfunction syndrome 2	10.0	GCH1 TOR1A
48	kleine-levin hibernation syndrome	10.0	HLA-DQB1 TOR1A
49	multifocal dystonia	10.0	CAMP TOR1A
50	spinocerebellar ataxia 2	10.0

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

Sources

Symptoms & Phenotypes for Cervical Dystonia

MGI Mouse Phenotypes related to Cervical Dystonia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.56	BDNF CIZ1 DRD5 GNAL HLA-DQB1 NALCN
2	mortality/aging	MP:0010768	9.28	BDNF CAMP DRD5 GCH1 GNAL HLA-DQB1

Sources

Drugs & Therapeutics for Cervical Dystonia

Drugs for Cervical Dystonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcholine

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

51-84-3

187

Acetylcholine Release Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Cholinergic Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Peripheral Nervous System Agents