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MCID: CRV043
MIFTS: 45

Cervical Dystonia

Categories: Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Cervical Dystonia

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MalaCards integrated aliases for Cervical Dystonia:

Name: Cervical Dystonia 12 52 36 15
Spasmodic Torticollis 12 74 52 32

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0050840
KEGG 36 H01608
ICD10 32 G24.3
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Summaries for Cervical Dystonia

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NIH Rare Diseases : 52 Cervical dystonia is 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 23 and dystonia 24. An important gene associated with Cervical Dystonia is CIZ1 (CDKN1A Interacting Zinc Finger Protein 1), and among its related pathways/superpathways are TCR Signaling (Qiagen) and ICos-ICosL Pathway in T-Helper Cell. The drugs Acetylcholine and rimabotulinumtoxinB 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 nervous system

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.

KEGG : 36 Cervical dystonia (CD), formerly referred to as spasmodic torticollis, is a condition characterized by simultaneous and sustained contractions of both agonist and antagonist muscles of the neck, which frequently result in abnormal movements or postures. CD is considered a form of primary adult-onset focal dystonia. The majority of patients complain of pain, which is not a common feature of other focal dystonias. Head rotation is common, but head tilt, neck extension, and flexionmay also occur, often in combination. The pathogenesis of primary CD is unclear. Patients with secondary CD may have an abnormal birth or developmental history, exposure to drugs known to cause dystonia (tardive dystonia), or neurological illness. Intramuscular injections of botulinum toxin (BoNT), have been shown to be efficacious and well tolerated when used to treat CD, and are therefore recommended as first-line therapy by current treatment guidelines.

Wikipedia : 74 Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to... more...

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Related Diseases for Cervical Dystonia

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

(show top 50) (show all 264)
# Related Disease Score Top Affiliating Genes
1 dystonia 23 33.6 CIZ1 ANO3
2 dystonia 24 32.8 THAP1 GNAL ANO3
3 torsion dystonia 4 32.2 GNAL CIZ1 ANO3
4 dystonia 3, torsion, x-linked 32.0 TOR1A THAP1 SGCE GCH1
5 torticollis 31.9 TOR1A CIZ1
6 lymphatic malformation 5 31.7 TOR1A THAP1 SGCE OMD GCH1
7 spasmodic dysphonia 30.9 TOR1A THAP1
8 dystonia 11, myoclonic 30.7 TOR1A THAP1 SGCE JRK GNAL GCH1
9 hereditary dystonia 30.6 TH GCH1
10 narcolepsy 30.4 HLA-DRB1 HLA-DQB1 HLA-DQA1 BDNF
11 alopecia areata 30.2 HLA-DRB1 HLA-DQB1 HLA-DQA1
12 gilles de la tourette syndrome 30.2 TH SGCE DRD5 BDNF
13 dystonia 6, torsion 30.1 THAP1 CIZ1
14 oculogyric crisis 30.1 SPR GCH1 DRD5
15 dystonia 12 29.8 TOR1A THAP1 SGCE GNAL GCH1
16 obsessive-compulsive disorder 29.7 TOR1A SGCE GCH1 BDNF
17 parkinson disease, late-onset 29.6 TOR1A TH SPR GCH1 DRD5 BDNF
18 dystonia 1, torsion, autosomal dominant 29.4 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
19 choreatic disease 29.3 SGCE JRK GCH1 DRD5 BDNF
20 dystonia 29.3 TOR1A THAP1 TH SPR SGCE NALCN
21 segmental dystonia 29.1 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
22 focal hand dystonia 28.9 TOR1A THAP1 SGCE JRK GNAL GCH1
23 oromandibular dystonia 28.5 TOR1A THAP1 SGCE OMD GNAL GCH1
24 movement disease 28.3 TOR1A THAP1 TH SGCE OMD JRK
25 blepharospasm 28.2 TOR1A THAP1 SGCE OMD JRK GNAL
26 focal dystonia 28.2 TOR1A THAP1 SGCE OMD JRK HLA-DRB1
27 spasmodic dystonia 28.0 TOR1A THAP1 SGCE OMD JRK GNAL
28 obsolete: cervical dystonia 12.3
29 leukoencephalopathy with dystonia and motor neuropathy 11.6
30 dyt-gnal 11.6
31 dystonia 7, torsion 11.5
32 dyt-thap1 11.5
33 dystonia 4, torsion, autosomal dominant 11.2
34 klippel-feil syndrome 11.2
35 tremor 10.7
36 dysphagia 10.7
37 focal, segmental or multifocal dystonia 10.6
38 benign paroxysmal torticollis of infancy 10.6
39 limbic encephalitis with lgi1 antibodies 10.5 HLA-DRB1 HLA-DQB1
40 achalasia, familial esophageal 10.5 HLA-DQB1 HLA-DQA1
41 autoimmune polyglandular syndrome type 3 10.5 HLA-DRB1 HLA-DQB1
42 hypersomnia 10.5 HLA-DRB1 HLA-DQB1
43 narcolepsy 2 10.5 HLA-DRB1 HLA-DQB1
44 type ii mixed cryoglobulinemia 10.5 HLA-DRB1 HLA-DQB1
45 moyamoya angiopathy 10.5 HLA-DRB1 HLA-DQB1
46 recurrent respiratory papillomatosis 10.5 HLA-DRB1 HLA-DQB1
47 neonatal hypoxic and ischemic brain injury 10.5 TH BDNF
48 apple allergy 10.4 HLA-DRB1 HLA-DQB1
49 chronic beryllium disease 10.4 HLA-DRB1 HLA-DQB1
50 metal allergy 10.4 HLA-DRB1 HLA-DQB1

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



Diseases related to Cervical Dystonia
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Symptoms & Phenotypes for Cervical Dystonia

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MGI Mouse Phenotypes related to Cervical Dystonia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ATM BDNF CDIP1 CIZ1 DRD5 GNAL
2 nervous system MP:0003631 9.36 ATM BDNF DRD5 GCH1 HLA-DQB1 NALCN
Sources

Drugs & Therapeutics for Cervical Dystonia

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

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 rimabotulinumtoxinB Phase 4
3 incobotulinumtoxinA Phase 4
4 Neurotransmitter Agents Phase 4
5 Acetylcholine Release Inhibitors Phase 4
6 Cholinergic Agents Phase 4
7 abobotulinumtoxinA Phase 4
8 Botulinum Toxins Phase 4
9 Botulinum Toxins, Type A Phase 4
10 Neuromuscular Agents Phase 4
11 Pharmaceutical Solutions Phase 3
12
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
13
Ethanol Approved Phase 2 64-17-5 702
14
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
15
Amlodipine Approved Phase 2 88150-42-9 2162
16
Levetiracetam Approved Phase 2 102767-28-2 441341
17
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
18 Anti-Inflammatory Agents Phase 1, Phase 2
19 Analgesics Phase 2
20 Psychotropic Drugs Phase 2
21 Analgesics, Non-Narcotic Phase 2
22 Hallucinogens Phase 2
23 Hormone Antagonists Phase 2
24 Cannabinoid Receptor Agonists Phase 2
25 insulin Phase 2
26 Insulin, Globin Zinc Phase 2
27 Immunologic Factors Phase 1, Phase 2
28 Gastrointestinal Agents Phase 1, Phase 2
29 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
30 Antirheumatic Agents Phase 1, Phase 2
31 Immunosuppressive Agents Phase 1, Phase 2
32 Autoantibodies Phase 1, Phase 2
33 Antihypertensive Agents Phase 2
34 Hormones Phase 2
35 Calcium, Dietary Phase 2
36 calcium channel blockers Phase 2
37 Vasodilator Agents Phase 2
38 Nootropic Agents Phase 2
39 Anticonvulsants Phase 2
40
Trihexyphenidyl Approved 144-11-6, 58947-95-8 5572
41
Methylprednisolone Approved, Vet_approved 83-43-2 6741
42
Methylprednisolone hemisuccinate Approved 2921-57-5
43
Prednisolone Approved, Vet_approved 50-24-8 5755
44 Prednisolone acetate Approved, Vet_approved 52-21-1
45
Prednisolone phosphate Approved, Vet_approved 302-25-0
46
Triamcinolone Approved, Vet_approved 124-94-7 31307
47
Prednisolone hemisuccinate Experimental 2920-86-7
48
Cortisone Experimental 53-06-5 222786
49 Antiparkinson Agents
50 Muscarinic Antagonists

Interventional clinical trials:

(show top 50) (show all 110)
# Name Status NCT ID Phase Drugs
1 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
2 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
3 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
4 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
5 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
6 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
7 A Placebo Controlled, Cross-over, Double Blind, Randomized, Clinical Trial to Compare the Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
8 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
9 An Open Label Safety and Immunogenicity Study of MYOBLOC (Neurobloc; Botulinum Toxin Type B) Injectable Solution in Patients With Cervical Dystonia Completed NCT00702754 Phase 4
10 A Double Blind, Randomized, Multi-center, Cross-over Study to Demonstrate the Non-inferiority of Dysport® in Comparison With Botox®, Assuming a Bioequivalence Ratio of 2.5:1 Units, in the Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
11 Prospective, Single-arm, Multicenter Trial to Investigate the Efficacy and Safety of NT 201 and the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Patients With Cervical Dystonia Completed NCT00541905 Phase 4 NT 201
12 An Open-Label, Non-Inferiority Study Evaluating the Efficacy and Safety of Two Injection Schedules of Xeomin® (incobotulinumtoxinA) [Short Flex Versus Long Flex] in Subjects With Cervical Dystonia With < 10 Weeks of Benefit From OnabotulinumtoxinA Treatment Completed NCT01486264 Phase 4
13 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
14 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
15 Comparison of Efficacy of 250 Units Versus 500 Units of Botulinum Toxin in the Treatment of Refractory Vaginismus Unknown status NCT00638066 Phase 3 botulinum toxin;botulinum toxin A
16 Prospective,Randomised, Double-blind, Multicenter Study to Assess the Efficacy and Safety of Bilateral Globus Pallidus Internus - in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
17 Open Multicentre Study to Demonstrate the Efficacy and Safety of Botulinum Toxin A (500 Units Dysport®) in the Treatment of Heterogeneous Forms of Cervical Dystonia Completed NCT00447772 Phase 3
18 A Phase 3b, Multicentre, Randomised, Double-Blind, Placebo-Controlled Study Evaluating the Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Placebo
19 A Prospective, Randomized, Multi-center, Phase III, Double-Blind, Activi Controlled, Parallel-group Study to Evaliate the Efficacy and Safety of MEDITOXIN® Comparison With BOTOX® in Treatment of Cervical Dystonia Completed NCT03905304 Phase 3
20 A Phase IIIb, Prospective, Multicentre, Open-Label Extension Study To Assess Long Term Safety And Effectiveness Of Dysport® Using 2 mL Dilution In Adults With Cervical Dystonia Completed NCT01753336 Phase 3
21 A Phase III Multicentre, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Dysport® for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3 Placebo
22 A Prospective, Randomized, Multi-center, Phase III, Double-blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of MEDITOXIN in Treatment of Cervical Dystonia Completed NCT03232320 Phase 3 Meditoxin;Placebo
23 A Phase III, Prospective, Multicenter, Open-label Extension Study to Assess the Longer Term Safety and Efficacy of Repeated Treatment of Dysport® Intramuscular Injection in the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3
24 Prospective, Double-blind, Placebo-controlled, Randomized, Multi-center Trial With a Double-blind Parallel-group Extension Period to Investigate the Efficacy and Safety of Different Doses of IncobotulinumtoxinA (Xeomin) in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3 incobotulinumtoxinA (Xeomin) (240 Units);incobotulinumtoxinA (Xeomin) (120 Units);Placebo
25 Efficacy and Safety of Xeomin for the Treatment of Notalgia Paresthetica Completed NCT01098019 Phase 3 Xeomin;Placebo / Xeomin
26 A Phase III, Randomised, Double-blind and Open Label Phase, Active and Placebo Controlled Study Comparing the Short-term Efficacy of Two Formulations of Clostridium Botulinum Type A Toxin (Dysport and Dysport NG) to Placebo, and Assessing the Short and Long Term Efficacy and Safety of Dysport NG Following Repeated Treatments of Subjects With Cervical Dystonia Completed NCT01261611 Phase 3 Placebo
27 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
28 A 48-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 250 Unit of Dysport Versus 50 Unit of Neuronox Injection For Cervical Dystonia in Thai Patients Recruiting NCT03805152 Phase 3 Neuronox(R);Dysport (R)
29 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Multi-Center Trial to Evaluate the Efficacy and Safety of a Single Treatment of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-1) Recruiting NCT03608397 Phase 3
30 A Phase 3, Open-Label, Multi-Center Trial to Evaluate the Long-Term Safety and Efficacy of Repeat Treatments of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-OLS) Recruiting NCT03617367 Phase 3
31 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor by a Multi-center, Randomized, Double-Blind, Parallel-group, Placebo-controlled Study Recruiting NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
32 ASIS for Botox in Cervical Dystonia Unknown status NCT02074293 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
33 Phase II, Double Blind, Randomized, Placebo Controlled Trial of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
34 Study of the Treatment of Tendinopathy Unruptured of Rotator Cuff by Intramuscular Injection of Botulinum Toxin Unknown status NCT02867787 Phase 2 Botox arm
35 Treatment of Temporo-Myofascial Disorder of Muscular Origin Using Botulinum Toxin: A Prospective Study Unknown status NCT02810015 Phase 2 Botulinum Toxin Type A
36 ASIS for Enbrel in Plaque Psoriasis Unknown status NCT02112097 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Enbrel subcutaneously at Week 12;Efficacy of Enbrel subcutaneously at Week 24;Efficacy of Enbrel subcutaneously at Week 36;Efficacy of Enbrel subdermally at Week 12;Efficacy of Enbrel subdermally at Week 24;Efficacy of Enbrel subdermally at Week 36;PASI 75 n(%) subcutaneously at Week 12;PASI 75 n(%) subcutaneously at Week 24;PASI 75 n(%) subcutaneously at Week 36;PASI 75 n(%) subdermally at Week 12;PASI 75 n(%) subdermally at Week 24;PASI 75 n(%) subdermally at Week 36;Adverse Reactions of Enbrel subcutaneously;Adverse Reactions of Enbrel subdermally at Week 36;Gadolinium;Gadolinium;Gadolinium
37 Dose-escalating Safety and Preliminary Efficacy of DaxibotulinumtoxinA for Injection in Cervical Dystonia Completed NCT02706795 Phase 2
38 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2 Normal Saline
39 Randomized, Double-Blind, Placebo-Controlled, Parallel, Group Dose-Response, Study of E2014 in Patients WIth Spasmodic Torticollis Completed NCT00165776 Phase 2 BOTULINUM TOXIN TYPE B
40 Study for Determine the Safety and Efficacy of Clostridium Botulinum Toxin Type A in Subjects With Cervical Dystonia Completed NCT01588574 Phase 2
41 An Electrophysiological Study Of E2014 In Healthy Adult Male Japanese And Caucasian Subjects Completed NCT00280384 Phase 2 E2014 (Botulinum toxin type B);E2014 (Botulinum toxin type B) Placebo
42 Trial of Amlodipine Combined With Botulinum Toxin Injections for Focal Dystonia Completed NCT00015457 Phase 2 Amlodipine plus Botulinum toxin
43 Randomized, Double-Blind, Placebo-Controlled, Crossover Study of Botulinum Toxin Type A (Botox) for the Treatment of Pain Associated With Cervical Dystonia and Refractory Cervicothoracic Myofascial Pain Syndrome Completed NCT00178945 Phase 1, Phase 2 Botulinum Toxin Type A
44 Comparison of Clinical and Kinematic Assessment in the Determination of Botox® Injection Parameters in Cervical Dystonia Patients Recruiting NCT02662530 Phase 2 Botulinum Toxin Type A
45 An Open-label Phase 2a Study to Evaluate the Safety and Tolerability of Perampanel (E2007) in Subjects With Cervical Dystonia (SAFE-Per CD) Recruiting NCT02131467 Phase 1, Phase 2 Perampanel
46 Prospective Double Blind Evaluation of Levetiracetam (Keppra) for the Treatment of Cervical Dystonia Terminated NCT00760318 Phase 2 Keppra
47 Effectiveness of Botulinum Toxin Injection After Exercising Splenius Capitis Muscle in Patients With Cervical Dystonia Unknown status NCT01041157 Phase 1
48 A Phase I, Single-dose, Double-blind, Placebo Controlled, Dose Escalation Study to Evaluate the Safety of PurTox for the Treatment of Adult Onset Spasmodic Torticollis/Cervical Dystonia and to Explore Dose-associated Efficacy Completed NCT00549341 Phase 1 Mentor Purified Toxin, Botulinum Toxn Type A, Purified Neurotoxin
49 Deep Brain Stimulation of the Globus Pallidus Interna or the Subthalamic Nucleus for Treatment of Primary Cervical Dystonia Completed NCT00132340 Phase 1
50 A Multi-center, Double-blind, Randomized, Parallel, Active-controlled, Phase I Clinical Trial to Compare the Safety and Efficacy of Botulax® Versus Botox® in Patients With Cervical Dystonia Not yet recruiting NCT04171258 Phase 1 Botulinum toxin type A injection;Botulinum Toxin Type A Injection [Botox]

Search NIH Clinical Center for Cervical Dystonia

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Genetic Tests for Cervical Dystonia

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Anatomical Context for Cervical Dystonia

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MalaCards organs/tissues related to Cervical Dystonia:

40
Brain, Globus Pallidus, Subthalamic Nucleus, Spinal Cord, Testes, Cerebellum, Cortex
Sources

Publications for Cervical Dystonia

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Articles related to Cervical Dystonia:

(show top 50) (show all 2069)
# Title Authors PMID Year
1
Effective botulinum toxin injection guide for treatment of cervical dystonia. 61
31301235 2020
2
[How to explore… a cervical dystonia]. 61
32030938 2020
3
Predictive factors for outcome of pallidal deep brain stimulation in cervical dystonia. 61
32036265 2020
4
Subthalamic stimulation for cervical dystonia. 61
32034497 2020
5
Pallidal Deep Brain Stimulation Reduces Sensorimotor Cortex Activation in Focal/Segmental Dystonia. 61
31922299 2020
6
Postural Directionality and Head Tremor in Cervical Dystonia. 61
32015932 2020
7
Sensory trick phenomenon in cervical dystonia: a functional MRI study. 61
31897600 2020
8
The Prevalence of Dystonic Tremor and Tremor Associated with Dystonia in Patients with Cervical Dystonia. 61
31996749 2020
9
Frequency of different subtypes of cervical dystonia: a prospective multicenter study according to Col-Cap concept. 61
31828512 2020
10
Tactile and proprioceptive dysfunction differentiates cervical dystonia with and without tremor. 61
31937622 2020
11
Objective analysis of neck muscle boundaries for cervical dystonia using ultrasound imaging and deep learning. 61
31940567 2020
12
Slowed luminance reaction times in cervical dystonia: Disordered superior colliculus processing. 61
31984559 2020
13
Impaired Saccade Adaptation in Tremor-Dominant Cervical Dystonia-Evidence for Maladaptive Cerebellum. 61
31965455 2020
14
Letter to the Editor, "A randomized study of botulinum toxin versus botulinum toxin plus physical therapy for treatment of cervical dystonia". 61
32035806 2020
15
A new treatment for cervical vertigo with botulinum toxin. 61
31956085 2020
16
Application of botulinum toxin in pregnancy and its impact on female reproductive health. 61
31868020 2020
17
Effective long-term treatment with incobotulinumtoxin (Xeomin®) without neutralizing antibody induction: a monocentric, cross-sectional study. 61
31960136 2020
18
Anatomo-functional mapping of the primate mesencephalic locomotor region using stereotactic lesions. 61
31922282 2020
19
A pooled meta-analysis of GPi and STN deep brain stimulation outcomes for cervical dystonia. 61
31938862 2020
20
Sensorimotor Perceptive Rehabilitation Integrated (SPRInt) program: exercises with augmented movement feedback associated to botulinum neurotoxin in idiopathic cervical dystonia-an observational study. 61
31478151 2020
21
The Effect of Computed Tomography-Guided Botulinum Toxin Injection on Cervical Dystonia, Confirmed by a 9-Month Follow-Up Using Positron Emission Tomography/Computed Tomography. 61
31850946 2020
22
Assessment of hand functions in patients with idiopathic cervical dystonia. 61
31950896 2020
23
Ataxia with Vitamin E Deficiency with Predominant Cervical Dystonia. 61
31970222 2020
24
Principles of Electrophysiological Assessments for Movement Disorders. 61
31986867 2020
25
How satisfied are cervical dystonia patients after 3 years of botulinum toxin type A treatment? Results from a prospective, long-term observational study. 61
31501975 2019
26
Correction to: How satisfied are cervical dystonia patients after 3 years of botulinum toxin type A treatment? Results from a prospective, long-term observational study. 61
31595379 2019
27
Range of voluntary neck motility predicts outcome of pallidal DBS for cervical dystonia. 61
31659440 2019
28
Slowed Movement Stopping in Parkinson's Disease and Focal Dystonia is Improved by Standard Treatment. 61
31862983 2019
29
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. 61
31848221 2019
30
Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes. 61
31706131 2019
31
Deep Brain Stimulation in Movement Disorders: From Experimental Surgery to Evidence-Based Therapy. 61
31580535 2019
32
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. 61
31876103 2019
33
Treatment of severe refractory dystonic tremor associated with cervical dystonia by bilateral deep brain stimulation: A case series report. 61
31877387 2019
34
Unilateral pallidotomy in the treatment of cervical dystonia: a retrospective observational study. 61
31860811 2019
35
Quality of life in idiopathic dystonia: a systematic review. 61
30460447 2019
36
Laryngeal vibration as a non-invasive neuromodulation therapy for spasmodic dysphonia. 61
31784618 2019
37
Cervical dystonia incidence and diagnostic delay in a multiethnic population. 61
31774238 2019
38
Hemodynamic responses are abnormal in isolated cervical dystonia. 61
31692015 2019
39
[99mTc]MIBI SPECT/CT for Identifying Dystonic Muscles in Patients with Primary Cervical Dystonia. 61
31721006 2019
40
Temporal discrimination threshold and blink reflex recovery cycle in cervical dystonia - two sides of the same coin? 61
31621616 2019
41
Management of Spastic Paresis and Cervical Dystonia: Access to Therapeutic Innovations Through an International Program of Practical Courses. 61
31607560 2019
42
Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients. 61
31745482 2019
43
Long-term Safety and Dosing of OnabotulinumtoxinA: A Prospective, Observational Study. 61
31256770 2019
44
Maladaptive striatal plasticity and abnormal reward-learning in cervical dystonia. 61
30955204 2019
45
Clinical outcomes of pallidal deep brain stimulation for dystonia implanted using intraoperative MRI. 61
31604331 2019
46
Minimal clinically important change in patients with cervical dystonia: Results from the CD PROBE study. 61
31494402 2019
47
Patient-adjusted deep-brain stimulation programming is time saving in dystonia patients. 61
31197514 2019
48
Cognitive correlates of prospective memory in dystonia. 61
31279634 2019
49
Relationship between jerky and sinusoidal oscillations in cervical dystonia. 61
31345708 2019
50
Comorbidity and retirement in cervical dystonia. 61
31152297 2019
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Variations for Cervical Dystonia

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Expression for Cervical Dystonia

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Search GEO for disease gene expression data for Cervical Dystonia.
Sources

Pathways for Cervical Dystonia

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Pathways related to Cervical Dystonia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
TCR Signaling (Qiagen) 63
Show member pathways
 12.67 HLA-DRB1 HLA-DQB1 HLA-DQA1 GNAL ATM
2
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12 HLA-DRB1 HLA-DQB1 HLA-DQA1 GNAL
3
Human T-cell leukemia virus 1 infection 36
11.9 HLA-DRB1 HLA-DQB1 HLA-DQA1 ATM
4
Translocation of ZAP-70 to Immunological synapse 65
Show member pathways
 11.69 HLA-DRB1 HLA-DQB1 HLA-DQA1
5
MHC class II antigen presentation 65
11.65 HLA-DRB1 HLA-DQB1 HLA-DQA1
6
Hematopoietic cell lineage 36
11.6 HLA-DRB1 HLA-DQB1 HLA-DQA1
7
Staphylococcus aureus infection 36
11.56 HLA-DRB1 HLA-DQB1 HLA-DQA1
8
Rheumatoid arthritis 36
11.51 HLA-DRB1 HLA-DQB1 HLA-DQA1
9
G-protein signaling N-RAS regulation pathway 22
Show member pathways
 11.29 HLA-DRB1 HLA-DQB1 HLA-DQA1
10
CTLA4 Signaling 63
10.78 HLA-DRB1 HLA-DQB1 HLA-DQA1 GNAL
11
Folate biosynthesis 36
Show member pathways
 10.59 TH SPR GCH1
Sources

GO Terms for Cervical Dystonia

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Cellular components related to Cervical Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.73 HLA-DRB1 HLA-DQB1 HLA-DQA1 CDIP1
2 trans-Golgi network membrane GO:0032588 9.58 HLA-DRB1 HLA-DQB1 HLA-DQA1
3 endocytic vesicle membrane GO:0030666 9.54 HLA-DRB1 HLA-DQB1 HLA-DQA1
4 ER to Golgi transport vesicle membrane GO:0012507 9.5 HLA-DRB1 HLA-DQB1 HLA-DQA1
5 transport vesicle membrane GO:0030658 9.43 HLA-DRB1 HLA-DQB1 HLA-DQA1
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.33 HLA-DRB1 HLA-DQB1 HLA-DQA1
7 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.13 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 MHC class II protein complex GO:0042613 8.8 HLA-DRB1 HLA-DQB1 HLA-DQA1

Biological processes related to Cervical Dystonia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.7 HLA-DRB1 HLA-DQB1 HLA-DQA1
2 interferon-gamma-mediated signaling pathway GO:0060333 9.58 HLA-DRB1 HLA-DQB1 HLA-DQA1
3 synaptic transmission, dopaminergic GO:0001963 9.54 TH DRD5
4 nitric oxide biosynthetic process GO:0006809 9.51 SPR GCH1
5 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.49 GNAL DRD5
6 regulation of protein localization to cell surface GO:2000008 9.48 TOR1A BDNF
7 cofactor metabolic process GO:0051186 9.46 SPR GCH1
8 dopamine biosynthetic process GO:0042416 9.43 TH GCH1
9 mating behavior GO:0007617 9.37 TH DRD5
10 antigen processing and presentation GO:0019882 9.33 HLA-DRB1 HLA-DQB1 HLA-DQA1
11 tetrahydrobiopterin biosynthetic process GO:0006729 9.32 SPR GCH1
12 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.26 HLA-DRB1 HLA-DQB1
13 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 8.96 HLA-DRB1 HLA-DQB1
14 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.8 HLA-DRB1 HLA-DQB1 HLA-DQA1

Molecular functions related to Cervical Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dopamine binding GO:0035240 9.16 TH DRD5
2 peptide antigen binding GO:0042605 9.13 HLA-DRB1 HLA-DQB1 HLA-DQA1
3 MHC class II receptor activity GO:0032395 8.8 HLA-DRB1 HLA-DQB1 HLA-DQA1
Sources

Sources for Cervical Dystonia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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