MCID: CRV043
MIFTS: 55

Cervical Dystonia malady

Rare diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Cervical Dystonia

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 based summary: Cervical Dystonia, also known as spasmodic torticollis, is related to focal dystonia and torsion dystonia. An important gene associated with Cervical Dystonia is DRD5 (dopamine receptor D5), and among its related pathways are Metabolism of nitric oxide and Folate biosynthesis. The compounds dihydroneopterin triphosphate and Sapropterin have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and testes, and related mouse phenotypes are endocrine/exocrine gland and behavior/neurological.

Disease Ontology:8 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:65 Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to... more...

Aliases & Classifications for Cervical Dystonia

About this section

Cervical Dystonia, Aliases & Descriptions:

Name: Cervical Dystonia 8 42
Spasmodic Torticollis 8 42
 
Dystonia Disorders 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050840
ICD1025 G24, G24.3, G24.9

Related Diseases for Cervical Dystonia

About this section

Diseases in the Cervical Dystonia family:

Dystonia, Primary Cervical

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1focal dystonia31.1DRD5
2torsion dystonia31.0GCH1
3parkinson's disease30.3SPR, TH, GCH1, BDNF, APOE
4dementia30.3BDNF, TH, APOE
5alzheimer's disease29.6APOE, BDNF, TH, HLA-DRB1
6multiple sclerosis29.5APOE, BDNF, HLA-DQB1, HLA-DQA1, HLA-DRB1
7cervicitis11.4
8dystonia11.4
9blepharospasm10.7
10blindness10.7
11tremor10.6
12essential tremor10.4
13ataxia10.4
14tyrosine hydroxylase deficiency10.4TH
15torticollis, familial10.4
16phenylketonuria10.4GCH1, SPR
17huntington's disease10.3
18laryngitis10.3
19spinocerebellar ataxia10.3
20hemifacial spasm10.3
21narcolepsy10.3HLA-DRB1
22cerebritis10.3
23headache10.3
24gtp cyclohydrolase i deficiency10.3TH, GCH1
25attention deficit hyperactivity disorder10.2BDNF, DRD5
26central hypoventilation syndrome, congenital, with or without hirschsprung disease10.2BDNF, TH
27neonatal hypoxic and ischemic brain injury10.2TH, BDNF
28bipolar disorder10.2BDNF, TH
29athetosis10.2
30benign paroxysmal torticollis of infancy10.2
31amyotrophic lateral sclerosis type 1410.2BDNF, TH
32movement disease10.2GCH1, TH
33rett syndrome10.2BDNF, TH
34cerebellar ataxia10.2
35myasthenia gravis10.2
36radiculopathy10.2
37sandifer syndrome10.2
38dysphagia10.2
39combined cervical dystonia10.2
40multiple sclerosis 110.2HLA-DQB1, HLA-DRB1
41progressive supranuclear palsy10.2TH, APOE
42lewy body dementia10.2APOE, TH
43hyperphenylalaninemia10.1GCH1, TH, SPR
44memory impairment10.1BDNF, APOE
45autistic disorder10.1BDNF, TH
46celiac disease10.1HLA-DQB1, HLA-DQA1
47pulmonary tuberculosis10.1HLA-DRB1, HLA-DQB1
48amyotrophic lateral sclerosis10.0
49ataxia telangiectasia10.0
50multiple system atrophy10.0

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



Diseases related to cervical dystonia

Symptoms for Cervical Dystonia

About this section

Drugs & Therapeutics for Cervical Dystonia

About this section

Drug clinical trials:

Search ClinicalTrials for Cervical Dystonia

Search NIH Clinical Center for Cervical Dystonia

Genetic Tests for Cervical Dystonia

About this section

Anatomical Context for Cervical Dystonia

About this section

MalaCards organs/tissues related to Cervical Dystonia:

32
Brain, Globus pallidus, Testes, Cortex, Subthalamic nucleus, Cerebellum, Spinal cord, Heart, T cells

Animal Models for Cervical Dystonia or affiliated genes

About this section

MGI Mouse Phenotypes related to Cervical Dystonia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.9DRD5, APOE, HLA-DQB1, ATM, TH
2MP:00053867.2SPR, TH, ATM, HLA-DQB1, APOE, BDNF
3MP:00036317.1BDNF, SPR, TH, ATM, HLA-DQB1, APOE

Publications for Cervical Dystonia

About this section

Articles related to Cervical Dystonia:

(show top 50)    (show all 500)
idTitleAuthorsYear
1
The clinical utility of botulinum toxin injections targeted at the motor endplate zone in cervical dystonia. (25060697)
2014
2
A headset method for measuring the visual temporal discrimination threshold in cervical dystonia. (25126450)
2014
3
Deep brain stimulation for cervical dystonia. (25127234)
2014
4
Effects of two weeks of cerebellar theta burst stimulation in cervical dystonia patients. (24881805)
2014
5
Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia. (23724362)
2013
6
Chiropractic care using a functional neurologic approach for idiopathic cervical dystonia in a 59-year-old woman. (24294147)
2013
7
Structural brain abnormalities in cervical dystonia. (24131497)
2013
8
Association of the Val66Met polymorphism of the BDNF gene with primary cranial-cervical dystonia patients from South-west China. (23816543)
2013
9
Interhemispheric difference of pallidal local field potential activity in cervical dystonia. (23990682)
2013
10
Reduced parietal activation in cervical dystonia after parietal TMS interleaved with fMRI. (22386903)
2012
11
Survey of practices employed by neurologists for the definition and management of secondary non-response to botulinum toxin in cervical dystonia. (23597436)
2012
12
Clinical experience of dose conversion ratios between 2 botulinum toxin products in the treatment of cervical dystonia. (23123690)
2012
13
A loud auditory stimulus overcomes voluntary movement limitation in cervical dystonia. (23091598)
2012
14
Somatosensory temporal discrimination tested in patients receiving botulinum toxin injection for cervical dystonia. (21506155)
2011
15
Evolution of dose and response to botulinum toxin A in cervical dystonia: a multicenter study. (21197540)
2011
16
A prospective, randomized, double-blind study comparing the efficacy and safety of type a botulinum toxins botox and prosigne in the treatment of cervical dystonia. (19959960)
2010
17
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. (19473353)
2009
18
Cervical dystonia presenting as a phenocopy in an Irish SCA2 family. (19086087)
2009
19
Cervical dystonia: clinical and therapeutic features in 85 patients. (18392407)
2008
20
Neuronal firing rates and patterns in the globus pallidus internus of patients with cervical dystonia differ from those with Parkinson's disease. (17537900)
2007
21
Various patterns of gestes antagonistes in cervical dystonia. (17355914)
2007
22
Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. (17442609)
2007
23
Botulinum toxin therapy for cervical dystonia. (16785112)
2006
24
Secondary nonresponsiveness to botulinum toxin A in cervical dystonia: the role of electromyogram-guided injections, botulinum toxin A antibody assay, and the extensor digitorum brevis test. (16874756)
2006
25
CDIP-58 can measure the impact of botulinum toxin treatment in cervical dystonia. (17190951)
2006
26
The safety and tolerability of botulinum toxins for the treatment of cervical dystonia. (15794717)
2005
27
Long-term botulinum toxin treatment increases employment rate in patients with cervical dystonia. (16114026)
2005
28
Natural history of posttraumatic cervical dystonia. (15390063)
2004
29
Pallidal deep brain stimulation in cervical dystonia: clinical outcome in four cases. (15376476)
2004
30
Frequency of familial aggregation in primary adult-onset cranial cervical dystonia. (14598070)
2003
31
Abnormalities of cortical excitability and cortical inhibition in cervical dystonia Evidence from somatosensory evoked potentials and paired transcranial magnetic stimulation recordings. (12527991)
2003
32
Diminished striatal [123I]iodobenzovesamicol binding in idiopathic cervical dystonia. (12666122)
2003
33
Treatment of cervical dystonia by olanzapine. (12766936)
2003
34
Cervical dystonia in dentatorubral-pallidoluysian atrophy. (12956864)
2003
35
Impaired sensorimotor integration in cervical dystonia: a study using transcranial magnetic stimulation and muscle vibration. (12226568)
2002
36
Neutralizing botulinum toxin type a antibodies: clinical observations in patients with cervical dystonia. (12396862)
2001
37
Prospective study of selective peripheral denervation for botulinum-toxin resistant patients with cervical dystonia. (11287376)
2001
38
Cervical dystonia pathophysiology and treatment options. (11708764)
2001
39
Head tremor in cervical dystonia. (10830347)
2000
40
Sensory tricks in cervical dystonia: perceptual dysbalance of parietal cortex modulates frontal motor programming. (10716251)
2000
41
Intramuscular phenol injection for severe cervical dystonia. (10751122)
2000
42
Posturographic findings in patients with idiopathic cervical dystonia before and after local injections with botulinum toxin. (10343149)
1999
43
A pilot trial of clozapine in the treatment of cervical dystonia. (9669485)
1998
44
Treatment of cervical dystonia: a comparison of measures for outcome assessment. (9686779)
1998
45
Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. (9342206)
1997
46
Treatment of putative immune-mediated and idiopathic cervical dystonia with intravenous methylprednisolone. (9065556)
1997
47
Physiological study of cervical dystonia. Task-specific abnormality in contingent negative variation. (7735891)
1995
48
Treatment with botulinum toxin injections does not change brainstem interneuronal excitability in patients with cervical dystonia. (9316668)
1994
49
Quantitative electromyographic analysis of changes in muscle activity following botulinum toxin therapy for cervical dystonia. (8504437)
1993
50
Brachial plexopathy after Botulinum toxin administration for cervical dystonia. (8382272)
1993

Variations for Cervical Dystonia

About this section

Expression for genes affiliated with Cervical Dystonia

About this section
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

About this section

Pathways related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9GCH1, SPR
29.9GCH1, SPR
3
Show member pathways
9.3HLA-DQB1, HLA-DQA1, BDNF
49.2HLA-DRB1, HLA-DQA1, HLA-DQB1
5
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
69.2HLA-DRB1, HLA-DQA1, HLA-DQB1
7
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
8
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
9
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
10
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
11
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
12
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
13
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
149.2HLA-DQB1, HLA-DQA1, HLA-DRB1
15
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
169.2HLA-DRB1, HLA-DQA1, HLA-DQB1
17
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
18
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
199.2HLA-DRB1, HLA-DQA1, HLA-DQB1
209.2HLA-DQB1, HLA-DQA1, HLA-DRB1
21
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
22
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
239.2HLA-DRB1, HLA-DQA1, HLA-DQB1
24
Show member pathways
8.8HLA-DQB1, HLA-DQA1, HLA-DRB1, BDNF
258.6ATM, HLA-DQB1, HLA-DQA1, HLA-DRB1
26
Show member pathways
8.4BDNF, HLA-DRB1, HLA-DQA1, HLA-DQB1, TH

Compounds for genes affiliated with Cervical Dystonia

About this section

Compounds related to Cervical Dystonia according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1dihydroneopterin triphosphate44 2411.2SPR, GCH1
2Sapropterin2410.1SPR, TH
34a-hydroxytetrahydrobiopterin44 2411.1GCH1, TH
4methylphenidate44 50 1112.0DRD5, TH
5pterin44 2411.0TH, SPR
6dpa 14410.0HLA-DQA1, HLA-DRB1
73-nitropropionic acid4410.0BDNF, TH
8dopac4410.0TH, BDNF
9mhpg449.9BDNF, TH
10maoa449.9BDNF, TH
11melatonin44 28 61 24 1113.9BDNF, GCH1, SPR
12glatiramer acetate44 1110.9BDNF, HLA-DRB1
136-pyruvoyltetrahydropterin449.9TH, SPR, GCH1
14dihydropteridine44 2410.9GCH1, TH, SPR
15dihydrobiopterin44 2410.9GCH1, TH, SPR
16pteridine449.9SPR, GCH1, TH
17sepiapterin44 2410.9SPR, GCH1, TH
18tetrahydrobiopterin44 24 1111.8TH, GCH1, SPR
19ketanserin44 2810.8BDNF, DRD5
20homovanillic acid44 2410.8TH, BDNF
21pramipexole44 28 50 1112.8TH, DRD5, BDNF
22amino acid449.8HLA-DRB1, BDNF
23quetiapine44 50 28 24 1113.8TH, DRD5, BDNF
241 methyl 4 phenylpyridinium449.8TH, BDNF
25clozapine44 28 50 1112.7DRD5, TH, BDNF
26mptp449.7TH, BDNF, GCH1
27haloperidol44 50 28 2 1113.7TH, DRD5, BDNF
28lapatinib44 50 1111.7HLA-DRB1, HLA-DQA1
29selegiline44 1110.5BDNF, TH
30cdp choline449.5APOE, TH
31cysteamine44 24 1111.5BDNF, APOE
32levodopa44 1110.5BDNF, DRD5, TH, GCH1
33catecholamine449.5BDNF, GCH1, DRD5, TH
34phenylalanine449.5GCH1, SPR, TH, BDNF
35olanzapine44 50 28 24 1113.4APOE, DRD5, BDNF
36l-amino acid449.4TH, GCH1
37epinephrine44 24 1111.3GCH1, TH, BDNF
38tetrodotoxin44 61 2811.2TH, BDNF, APOE
39norepinephrine44 24 1111.2GCH1, DRD5, TH, SPR, BDNF
40kainate44 2810.2APOE, TH, BDNF
41ibmx44 61 2811.1BDNF, APOE, TH
42valine449.0APOE, BDNF, HLA-DRB1
43h2o2448.7TH, APOE, GCH1, BDNF
44paraffin448.6ATM, TH, APOE, HLA-DQA1
45glutamine448.5APOE, HLA-DQB1, ATM, TH
46aspartate448.5APOE, HLA-DQA1, HLA-DQB1, TH, BDNF
47dopamine44 28 24 1111.4TH, BDNF, GCH1, DRD5, APOE, SPR
48glutamate448.3HLA-DQB1, HLA-DRB1, TH, APOE, BDNF
49estrogen448.2BDNF, ATM, TH, GCH1, APOE
50tyrosine447.7BDNF, GCH1, DRD5, HLA-DRB1, HLA-DQB1, ATM

GO Terms for genes affiliated with Cervical Dystonia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.4HLA-DRB1, HLA-DQA1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:0715569.3HLA-DRB1, HLA-DQA1, HLA-DQB1
3clathrin-coated endocytic vesicle membraneGO:0306699.3HLA-DQB1, HLA-DQA1, HLA-DRB1
4transport vesicle membraneGO:0306589.3HLA-DRB1, HLA-DQA1, HLA-DQB1
5ER to Golgi transport vesicle membraneGO:0125079.2HLA-DQB1, HLA-DQA1, HLA-DRB1
6lysosomal membraneGO:0057659.2HLA-DRB1, HLA-DQA1, HLA-DQB1
7trans-Golgi network membraneGO:0325889.1HLA-DRB1, HLA-DQA1, HLA-DQB1
8endocytic vesicle membraneGO:0306668.9HLA-DQB1, HLA-DQA1, HLA-DRB1

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1tetrahydrobiopterin biosynthetic processGO:00672910.2GCH1, SPR
2nitric oxide biosynthetic processGO:00680910.1SPR, GCH1
3nitric oxide metabolic processGO:04620910.0GCH1, SPR
4synaptic transmission, dopaminergicGO:00196310.0DRD5, TH
5regulation of nitric-oxide synthase activityGO:05099910.0GCH1, SPR
6dopamine biosynthetic processGO:04241610.0GCH1, TH
7negative regulation of blood pressureGO:04577610.0DRD5, GCH1
8immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.9HLA-DRB1, HLA-DQB1
9humoral immune response mediated by circulating immunoglobulinGO:0024559.8HLA-DQB1, HLA-DRB1
10response to amphetamineGO:0019759.8DRD5, TH
11positive regulation of nitric-oxide synthase activityGO:0510009.6GCH1, APOE
12interferon-gamma-mediated signaling pathwayGO:0603339.5HLA-DRB1, HLA-DQA1, HLA-DQB1
13vasodilationGO:0423119.5GCH1, APOE
14T cell costimulationGO:0312959.5HLA-DQB1, HLA-DQA1, HLA-DRB1
15T cell receptor signaling pathwayGO:0508529.5HLA-DQB1, HLA-DQA1, HLA-DRB1
16antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.5HLA-DRB1, HLA-DQA1, HLA-DQB1
17lipoprotein catabolic processGO:0421599.4APOE, ATM
18response to hypoxiaGO:0016669.2TH, ATM, BDNF
19immune responseGO:0069559.2HLA-DRB1, HLA-DQA1, HLA-DQB1
20cytokine-mediated signaling pathwayGO:0192219.1HLA-DQB1, HLA-DQA1, HLA-DRB1
21cellular response to growth factor stimulusGO:0713638.9APOE, TH

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

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.8DRD5, TH
2MHC class II receptor activityGO:0323958.9HLA-DRB1, HLA-DQA1, HLA-DQB1

Products for genes affiliated with Cervical Dystonia

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Cervical Dystonia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet