MCID: CRV043
MIFTS: 44

Cervical Dystonia malady

Neuronal category

Summaries for Cervical Dystonia

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Cervical dystonia is a focal dystonia characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head. 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 tremor and/or soreness of the muscles of the neck and shoulders. cervical dystonia can occur at any age, although most individuals first experience symptoms in middle age. it often begins slowly and usually reaches a plateau over a few months or years. treatment may include local intramuscular injections of botulinum toxin, analgesics, benzodiazepines (anti-anxiety medications), anticholinergics, physical therapy, or surgery. last updated: 11/9/2011

MalaCards: Cervical Dystonia, also known as spasmodic torticollis, is related to blepharospasm and focal dystonia. An important gene associated with Cervical Dystonia is DRD5 (dopamine receptor D5), and among its related pathways are Folate biosynthesis and Metabolism of nitric oxide. The compounds dihydroneopterin triphosphate and 4a-hydroxytetrahydrobiopterin have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum.

Wikipedia:64 Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to... more...

Aliases & Classifications for Cervical Dystonia

Sources:
43NIH Rare Diseases, 61UMLS, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

cervical dystonia 43
spasmodic torticollis 43
dystonia disorders 61


External Ids:

ICD1025 G24.3

Related Diseases for Cervical Dystonia

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to cervical dystonia

Clinical Features for Cervical Dystonia

Drugs & Therapeutics for Cervical Dystonia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cervical Dystonia

Drug clinical trials:

Search ClinicalTrials for Cervical Dystonia

Search NIH Clinical Center for Cervical Dystonia

Search CenterWatch for Cervical Dystonia

Genetic Tests for Cervical Dystonia

Anatomical Context for Cervical Dystonia

Sources:
33MalaCards
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MalaCards organs/tissues related to Cervical Dystonia:

33
Brain, Cortex, Cerebellum, Spinal cord, Heart, T cells, B cells, Globus pallidus, Subthalamic nucleus

Animal Models for Cervical Dystonia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Cervical Dystonia

Sources:
51PubMed
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Articles related to Cervical Dystonia:

(show top 50)    (show all 497)
idTitleAuthorsYear
1
The effectiveness of physiotherapy for cervical dystonia: a systematic literature review. (24413637)
2014
2
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. (23946315)
2013
3
Cervical dystonia in an Alzheimer's disease patient treated with donepezil. (23055114)
2013
4
Cervical dystonia and genetic common variation in the dopamine pathway. (22981186)
2013
5
Task-free functional MRI in cervical dystonia reveals multi-network changes that partially normalize with botulinum toxin. (23650536)
2013
6
No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families. (23813719)
2013
7
Somatosensory cortical activation in cervical dystonia and its modulation with botulinum toxin: an fMRI study. (21919815)
2012
8
Concurrent onabotulinumtoxinA treatment of cervical dystonia and concomitant migraine. (22607530)
2012
9
Usefulness of (18)f-fluorodeoxyglucose positron emission tomography/computed tomography in management of cervical dystonia. (23342305)
2012
10
Immunogenicity and long-term efficacy of botulinum toxin type B in the treatment of cervical dystonia: report of 4 prospective, multicenter trials. (22932474)
2012
11
Satisfaction with botulinum toxin treatment: a cross-sectional survey of patients with cervical dystonia. (22208596)
2012
12
Subthalamic nucleus deep brain stimulation in primary cervical dystonia. (21383323)
2011
13
A new botulinum toxin (Xeomin) for cervical dystonia and blepharospasm. (21068703)
2010
14
Vestibular evoked myogenic potentials are intact in cervical dystonia. (20960477)
2010
15
Long-term follow-up study of chronic deep brain stimulation of the subthalamic nucleus for cervical dystonia. (21992761)
2010
16
Neuroleptic-induced tardive cervical dystonia: clinical series of 20 patients. (19378719)
2009
17
Cervical dystonia: clinical and therapeutic features in 85 patients. (18392407)
2008
18
A single-blind trial of bilateral globus pallidus internus deep brain stimulation in medically refractory cervical dystonia. (18590610)
2008
19
Pallidal deep brain stimulation in patients with cranial-cervical dystonia (Meige syndrome). (17618522)
2007
20
The Canadian multicentre study of deep brain stimulation for cervical dystonia. (17905796)
2007
21
Cervical dystonia as a presenting symptom of Parkinson's disease. (16893668)
2006
22
The safety and tolerability of botulinum toxins for the treatment of cervical dystonia. (15794717)
2005
23
Sex and tremor location: similarities between essential tremor and cervical dystonia. (15529305)
2005
24
Treatment with botulinum toxin in a patient with myasthenia gravis and cervical dystonia. (15985599)
2005
25
Re: Patient-based outcomes of cervical dystonia: a review of rating scales. (16037919)
2005
26
The course of cervical dystonia and patient satisfaction with long-term botulinum toxin A treatment. (15693803)
2005
27
Botulinum toxin type A versus botulinum toxin type B for cervical dystonia. (15674940)
2005
28
Natural history of posttraumatic cervical dystonia. (15390063)
2004
29
The finding and evaluation of EMG-guided BOTOX injection in cervical dystonia. (15478678)
2004
30
Neck proprioception and spatial orientation in cervical dystonia. (15355873)
2004
31
Botulinum toxin A for the treatment of cervical dystonia. (15330738)
2004
32
Severe cervical dystonia in pathologically proven Parkinson's disease and dementia. (14639686)
2003
33
Botulinum toxin type B (Myobloc, NeuroBloc): a new choice in cervical dystonia. (19811026)
2001
34
Outcome of selective peripheral denervation for cervical dystonia. (12378056)
2001
35
Polymyography combined with time-locked video recording (video EMG) for presurgical assessment of patients with cervical dystonia. (11385259)
2001
36
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. (11009204)
2000
37
Bilateral pallidal stimulation for cervical dystonia: dissociated pain and motor improvement. (11113243)
2000
38
Polyradiculoneuritis after botulinum toxin therapy for cervical dystonia. (11020130)
2000
39
Posturographic findings in patients with idiopathic cervical dystonia before and after local injections with botulinum toxin. (10343149)
1999
40
Trick maneuvers in cervical dystonia: investigation of movement- and touch-related changes in polymyographic activity. (10584675)
1999
41
A pilot trial of clozapine in the treatment of cervical dystonia. (9669485)
1998
42
Treatment of cervical dystonia: a comparison of measures for outcome assessment. (9686779)
1998
43
Change in lateralization of the P22/N30 cortical component of median nerve somatosensory evoked potentials in patients with cervical dystonia after successful treatment with botulinum toxin A. (9452335)
1998
44
A double blind, randomised, parallel group study to investigate the dose equivalence of Dysport and Botox in the treatment of cervical dystonia. (9436720)
1998
45
Cervical dystonia and botulinum treatment: is electromyographic guidance necessary? (8750005)
1995
46
Cervical dystonia as an isolated sign of a basal ganglia tumour. (7823052)
1995
47
Quantitative EMG in botulinum toxin treatment of cervical dystonia. A double-blind, placebo-controlled study. (7529693)
1994
48
Adult onset familial cervical dystonia: report of a family including monozygotic twins. (8232359)
1993
49
Cervical dystonia following exposure to high-G forces. (2241735)
1990
50
Botulinum toxin in cervical dystonia. (3344637)
1988

Genetic Variations for Cervical Dystonia

Expression for genes affiliated with Cervical Dystonia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cervical Dystonia

Search GEO for disease gene expression data for Cervical Dystonia.

Pathways for genes affiliated with Cervical Dystonia

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 56SinoBiological, 53R&D Systems, 52QIAGEN, 12EMD Millipore
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Pathways related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SPR, GCH1
2
Hide members
9.8SPR, GCH1
3
Hide members
9.2HLA-DQA1, HLA-DQB1, BDNF
49.1HLA-DQB1, HLA-DRB1, HLA-DQA1
59.1HLA-DQA1, HLA-DRB1, HLA-DQB1
6
Hide members
9.1HLA-DQB1, HLA-DRB1, HLA-DQA1
7
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
89.1HLA-DQB1, HLA-DRB1, HLA-DQA1
99.1HLA-DQA1, HLA-DRB1, HLA-DQB1
10
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
11
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
129.1HLA-DQB1, HLA-DRB1, HLA-DQA1
139.1HLA-DQA1, HLA-DRB1, HLA-DQB1
149.1HLA-DQA1, HLA-DRB1, HLA-DQB1
15
Hide members
9.1HLA-DQB1, HLA-DRB1, HLA-DQA1
16
Immune response Antigen presentation by MHC class II
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
17
Hide members
9.1HLA-DQB1, HLA-DRB1, HLA-DQA1
189.1HLA-DQA1, HLA-DRB1, HLA-DQB1
19
Immune response NFAT in immune response
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
20
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
21
Immune response ICOS pathway in T-helper cell
Hide members
9.1HLA-DQB1, HLA-DRB1, HLA-DQA1
229.1HLA-DQA1, HLA-DRB1, HLA-DQB1
23
Hide members
8.6HLA-DQA1, HLA-DRB1, HLA-DQB1, BDNF
24
Hide members
8.1TH, HLA-DQA1, HLA-DRB1, HLA-DQB1, BDNF

Compounds for genes affiliated with Cervical Dystonia

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1dihydroneopterin triphosphate45 2411.2SPR, GCH1
24a-hydroxytetrahydrobiopterin45 2411.0GCH1, TH
3methylphenidate45 50 1112.0DRD5, TH
4pterin45 2411.0TH, SPR
5dpa 1459.9HLA-DQA1, HLA-DRB1
63-nitropropionic acid459.8BDNF, TH
7dopac459.8TH, BDNF
8mhpg459.8TH, BDNF
96-pyruvoyltetrahydropterin459.8SPR, TH, GCH1
10dihydropteridine45 2410.8GCH1, TH, SPR
11dihydrobiopterin45 2410.8GCH1, TH, SPR
12pteridine459.8GCH1, TH, SPR
13sepiapterin45 2410.8SPR, TH, GCH1
14tetrahydrobiopterin45 11 2411.8GCH1, TH, SPR
15maoa459.7BDNF, TH
16ketanserin29 4510.7DRD5, BDNF
17homovanillic acid45 2410.7BDNF, TH
18lapatinib45 50 1111.7HLA-DQA1, HLA-DRB1
19l-amino acid459.6TH, GCH1
20melatonin45 60 29 11 2413.6SPR, BDNF, GCH1
21pramipexole45 50 29 1112.6TH, DRD5, BDNF
22quetiapine45 50 29 11 2413.6BDNF, DRD5, TH
23glatiramer acetate45 1110.6BDNF, HLA-DRB1
241 methyl 4 phenylpyridinium459.6TH, BDNF
25clozapine45 29 50 1112.6TH, DRD5, BDNF
26h2o2459.5TH, GCH1
27haloperidol45 29 2 50 1113.5BDNF, DRD5, TH
28amino acid459.5HLA-DRB1, BDNF
29cdp choline459.5TH, APOE
30mptp459.5GCH1, BDNF, TH
31cysteamine45 11 2411.4BDNF, APOE
32levodopa45 1110.3GCH1, BDNF, DRD5, TH
33catecholamine459.3GCH1, BDNF, DRD5, TH
34olanzapine50 45 29 11 2413.2DRD5, APOE, BDNF
35phenylalanine459.2GCH1, BDNF, TH, SPR
36selegiline45 1110.2TH, BDNF
37tetrodotoxin45 60 2911.0TH, APOE, BDNF
38kainate45 2910.0TH, APOE, BDNF
39ibmx45 29 6011.0BDNF, APOE, TH
40norepinephrine45 11 2411.0SPR, TH, DRD5, BDNF, GCH1
41valine458.5BDNF, APOE, HLA-DRB1
42aspartate458.3TH, HLA-DQA1, HLA-DQB1, APOE, BDNF
43dopamine45 29 11 2411.2GCH1, BDNF, APOE, DRD5, TH, SPR
44tyrosine457.9GCH1, BDNF, DRD5, HLA-DQB1, HLA-DRB1, TH

GO Terms for genes affiliated with Cervical Dystonia

Sources:
16Gene Ontology
See all sources

Cellular components related to Cervical Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.3HLA-DQA1, HLA-DRB1, HLA-DQB1
2clathrin-coated endocytic vesicle membraneGO:0306699.2HLA-DQA1, HLA-DRB1, HLA-DQB1
3integral to lumenal side of endoplasmic reticulum membraneGO:0715569.2HLA-DQB1, HLA-DRB1, HLA-DQA1
4transport vesicle membraneGO:0306589.2HLA-DQB1, HLA-DRB1, HLA-DQA1
5ER to Golgi transport vesicle membraneGO:0125079.1HLA-DQB1, HLA-DRB1, HLA-DQA1
6lysosomal membraneGO:0057659.1HLA-DQA1, HLA-DRB1, HLA-DQB1
7trans-Golgi network membraneGO:0325889.0HLA-DQA1, HLA-DRB1, HLA-DQB1
8endocytic vesicle membraneGO:0306668.8HLA-DQB1, HLA-DRB1, HLA-DQA1

Biological processes related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1tetrahydrobiopterin biosynthetic processGO:00672910.1GCH1, SPR
2nitric oxide biosynthetic processGO:00680910.0SPR, GCH1
3synaptic transmission, dopaminergicGO:0019639.9TH, DRD5
4nitric oxide metabolic processGO:0462099.9GCH1, SPR
5dopamine biosynthetic processGO:0424169.9GCH1, TH
6regulation of nitric-oxide synthase activityGO:0509999.8SPR, GCH1
7immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.7HLA-DQB1, HLA-DRB1
8negative regulation of blood pressureGO:0457769.7GCH1, DRD5
9humoral immune response mediated by circulating immunoglobulinGO:0024559.7HLA-DRB1, HLA-DQB1
10response to amphetamineGO:0019759.4TH, DRD5
11positive regulation of nitric-oxide synthase activityGO:0510009.4APOE, GCH1
12interferon-gamma-mediated signaling pathwayGO:0603339.4HLA-DQA1, HLA-DRB1, HLA-DQB1
13T cell costimulationGO:0312959.4HLA-DQA1, HLA-DRB1, HLA-DQB1
14T cell receptor signaling pathwayGO:0508529.4HLA-DQB1, HLA-DRB1, HLA-DQA1
15vasodilationGO:0423119.3GCH1, APOE
16antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.3HLA-DQA1, HLA-DRB1, HLA-DQB1
17cytokine-mediated signaling pathwayGO:0192219.1HLA-DQA1, HLA-DRB1, HLA-DQB1

Molecular functions related to Cervical Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.7TH, DRD5
2MHC class II receptor activityGO:0323958.8HLA-DQA1, HLA-DRB1, HLA-DQB1

Products for genes affiliated with Cervical Dystonia

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Sources for Cervical Dystonia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet