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MCID: CRV043
MIFTS: 46

Cervical Dystonia

Categories: Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations 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 20 36 6 15
Spasmodic Torticollis 12 74 20 32

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle 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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GARD : 20 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 ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are CTLA4 Signaling and Folate biosynthesis. 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 cardiovascular 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 241)
# Related Disease Score Top Affiliating Genes
1 dystonia 23 32.0 CIZ1 ANO3
2 dystonia 24 31.5 THAP1 GNAL ANO3
3 torticollis 31.4 TOR1A CIZ1 ARID1B ACTL6A
4 lymphatic malformation 5 31.4 TOR1A THAP1 SGCE
5 dystonia 3, torsion, x-linked 31.3 TOR1A THAP1 SGCE GCH1
6 torsion dystonia 4 30.8 TOR1A THAP1 GNAL CIZ1 ANO3
7 spasmodic dysphonia 30.6 TOR1A THAP1
8 dystonia 11, myoclonic 30.4 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
9 narcolepsy 30.2 HLA-DQB1 HLA-DQA1 BDNF APOE
10 sleep disorder 30.0 TH HLA-DQB1 GCH1 BDNF APOE
11 oculogyric crisis 30.0 SPR GCH1
12 gilles de la tourette syndrome 29.8 TH SGCE DRD5 BDNF
13 hereditary dystonia 29.7 TH GCH1 ANO3
14 constipation 29.7 TH NALCN BDNF ARID1B
15 parkinson disease, late-onset 29.6 TOR1A TH SPR GCH1 BDNF APOE
16 obsessive-compulsive disorder 29.5 TOR1A SGCE BDNF APOE
17 isolated dystonia 29.4 TOR1A THAP1 GNAL GCH1 ANO3
18 dystonia 1, torsion, autosomal dominant 29.2 TOR1A THAP1 SGCE GNAL CIZ1 ANO3
19 dystonia 29.1 TOR1A THAP1 TH SPR SGCE NALCN
20 dystonia 12 28.8 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
21 blepharospasm 28.8 TOR1A THAP1 SGCE GNAL GCH1 DRD5
22 movement disease 28.7 TOR1A THAP1 TH SPR SGCE GNAL
23 oromandibular dystonia 28.7 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
24 focal dystonia 28.7 TOR1A THAP1 SGCE OR4X2 GNAL GCH1
25 segmental dystonia 28.7 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
26 choreatic disease 28.7 TOR1A THAP1 TH SGCE GNAL GCH1
27 focal hand dystonia 28.7 TOR1A THAP1 SGCE OR4X2 GNAL ANO3
28 spasmodic dystonia 28.6 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
29 disease of mental health 27.7 TOR1A TH SPR SGCE NALCN HLA-DQB1
30 leukoencephalopathy with dystonia and motor neuropathy 11.3
31 dyt-gnal 11.1
32 dystonia 7, torsion 11.0
33 dystonia 4, torsion, autosomal dominant 11.0
34 klippel-feil syndrome 11.0
35 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 11.0
36 dyt-thap1 11.0
37 tremor 10.8
38 dysphagia 10.7
39 ataxia and polyneuropathy, adult-onset 10.4
40 essential tremor 10.4
41 subjective cognitive decline 10.4 BDNF APOE
42 achalasia, familial esophageal 10.3 HLA-DQB1 HLA-DQA1
43 primary adrenal insufficiency 10.3 HLA-DQB1 HLA-DQA1
44 autoimmune hepatitis type 1 10.3 HLA-DQB1 HLA-DQA1
45 focal epithelial hyperplasia 10.3 HLA-DQB1 HLA-DQA1
46 conversion disorder 10.3 TOR1A BDNF
47 neonatal hypoxic and ischemic brain injury 10.3 TH BDNF
48 podoconiosis 10.3 HLA-DQB1 HLA-DQA1
49 idiopathic nephrotic syndrome 10.3 HLA-DQB1 APOE
50 traumatic brain injury 10.3 BDNF APOE

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 APOE ARID1B ATM BDNF CDIP1 CIZ1
2 cardiovascular system MP:0005385 10.06 ANO3 APOE ARID1B ATM DRD5 GCH1
3 cellular MP:0005384 10 ACTL6A APOE ATM BDNF CDIP1 CIZ1
4 growth/size/body region MP:0005378 10 APOE ARID1B ATM BDNF CIZ1 GCH1
5 mortality/aging MP:0010768 9.83 ACTL6A APOE ARID1B ATM BDNF CDIP1
6 nervous system MP:0003631 9.44 APOE ARID1B ATM BDNF DRD5 GCH1
Sources

Drugs & Therapeutics for Cervical Dystonia

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

(show all 36)
# 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 abobotulinumtoxinA Phase 4
5 Neurotransmitter Agents Phase 4
6 Botulinum Toxins Phase 4
7 Botulinum Toxins, Type A Phase 4
8 Cholinergic Agents Phase 4
9 Pharmaceutical Solutions Phase 3
10
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
11
Levetiracetam Approved Phase 2 102767-28-2 441341
12 Hallucinogens Phase 2
13 Analgesics, Non-Narcotic Phase 2
14 Hormone Antagonists Phase 2
15 Hormones Phase 2
16 Psychotropic Drugs Phase 2
17 Analgesics Phase 2
18 Anticonvulsants Phase 2
19
Trihexyphenidyl Approved 144-11-6, 58947-95-8 5572
20 Prednisolone acetate Approved, Vet_approved 52-21-1
21
Prednisolone Approved, Vet_approved 50-24-8 5755
22
Methylprednisolone hemisuccinate Approved 2921-57-5
23
Methylprednisolone Approved, Vet_approved 83-43-2 6741
24
Prednisolone phosphate Approved, Vet_approved 302-25-0
25
Triamcinolone Approved, Vet_approved 124-94-7 31307
26
Cortisone Experimental 53-06-5 222786
27
Prednisolone hemisuccinate Experimental 2920-86-7
28 Antiparkinson Agents
29 Cholinergic Antagonists
30 Muscarinic Antagonists
31 Dihydroxyphenylalanine
32 Anti-Inflammatory Agents
33 Methylprednisolone Acetate
34 Triamcinolone hexacetonide
35 triamcinolone acetonide
36 Triamcinolone diacetate

Interventional clinical trials:

(show top 50) (show all 87)
# 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 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
3 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)
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 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
7 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
8 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
9 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
10 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
11 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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
20 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
21 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) Completed NCT03608397 Phase 3
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 24-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 50 Unit of Neubotulinum Toxin Type A (Neuronox) and 100 Unit of Neubotulinum Toxin Type A (Neuronox) Injection for Cervical Dystonia in Thai Patients Recruiting NCT04582929 Phase 3 Neuronox ® Injection
24 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) Active, not recruiting NCT03617367 Phase 3
25 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 Enrolling by invitation NCT03805152 Phase 3 Neuronox(R);Dysport (R)
26 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
27 Phase II, Double Blind, Randomized, Placebo Controlled Trial of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
28 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
29 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
30 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2 Normal Saline
31 An Open-label Phase 2a Study to Evaluate the Safety and Tolerability of Perampanel (E2007) in Subjects With Cervical Dystonia (SAFE-Per CD) Completed NCT02131467 Phase 1, Phase 2 Perampanel
32 Study for Determine the Safety and Efficacy of Clostridium Botulinum Toxin Type A in Subjects With Cervical Dystonia Completed NCT01588574 Phase 2
33 Dose-escalating Safety and Preliminary Efficacy of DaxibotulinumtoxinA for Injection in Cervical Dystonia Completed NCT02706795 Phase 2
34 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
35 Comparison of Clinical and Kinematic Assessment in the Determination of Botox® Injection Parameters in Cervical Dystonia Patients Active, not recruiting NCT02662530 Phase 2 Botulinum Toxin Type A
36 Prospective Double Blind Evaluation of Levetiracetam (Keppra) for the Treatment of Cervical Dystonia Terminated NCT00760318 Phase 2 Keppra
37 Effectiveness of Botulinum Toxin Injection After Exercising Splenius Capitis Muscle in Patients With Cervical Dystonia Unknown status NCT01041157 Phase 1
38 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
39 Deep Brain Stimulation of the Globus Pallidus Interna or the Subthalamic Nucleus for Treatment of Primary Cervical Dystonia Completed NCT00132340 Phase 1
40 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]
41 Multimodal Treatment of Cervical Dystonia With Botulinum Toxin Injections Associated With a Sensory-motor Perceptive Rehabilitation Integrated Approach (SPRInt) Based on Motor Learning Techniques Unknown status NCT03247868
42 Functional Magnetic Resonance and Diffusion Tensor Imaging in the Preoperative Assessment of Dystonia Unknown status NCT02877836
43 Subthalamic Deep Brain Stimulation in Patients With Medication-Refractory Primary Cranial-Cervical Dystonia: A Randomised, Sham-controlled Trial Unknown status NCT02583074
44 Effect of Osteopathic Manipulative Medicine on Motor Function and Quality of Life in Cervical Dystonia Completed NCT02420106
45 Identification of Optimal Stimulation Site for Cervical Dystonia Symptoms: An Exploratory Study Completed NCT01859247
46 Effects of Botulinum on the Afferent Input Modulation of Neuronal Circuits Involved in Cervical Dystonia Completed NCT01056861 Botulinum Toxin A
47 Imaging Blood Brain Imaging Dysfunction in Parkinson's Disease Completed NCT02605161
48 Neuroimaging of Dystonia: The Bachmann-Strauss Dystonia and Parkinson Disease Center of Excellence at the University of Florida Completed NCT02046447 Primary Cervical Dystonia (Trihexyphenidyl)
49 Subthalamic Nucleus (STN) Deep Brain Stimulation (DBS) in Patients With Dystonia Completed NCT00773604
50 Randomized Trial of a Specialized Physiotherapy Program Versus Standard Physiotherapy Advice in Patients With Cervical Dystonia (Spasmodic Torticollis). Completed NCT00703287

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, Cerebellum, Cortex, Eye
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Publications for Cervical Dystonia

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Articles related to Cervical Dystonia:

(show top 50) (show all 2225)
# Title Authors PMID Year
1
CACNA1B gene variants in adult-onset isolated focal dystonia. 61
33051750 2021
2
The expanding clinical and genetic spectrum of ANO3 dystonia. 61
33388357 2021
3
Unexpected ketamine effect in a patient with cervical dystonia. 61
33388925 2021
4
Cervical Myeloradiculopathy and Atlantoaxial Instability in Cervical Dystonia. 61
33285336 2021
5
Abnormal regional homogeneity and its relationship with symptom severity in cervical dystonia: a rest state fMRI study. 61
33546628 2021
6
Cervical Dystonia Resolving After the Onset of Parkinson's Disease. 61
33585086 2021
7
Impaired Inhibitory Control of Saccadic Eye Movements in Cervical Dystonia: An Eye-Tracking Study. 61
33416199 2021
8
Botulinum toxin-associated prolonged remission of idiopathic cervical dystonia. 61
33397526 2021
9
The impact of the initial severity on later outcome: retrospective analysis of a large cohort of botulinum toxin naïve patients with idiopathic cervical dystonia. 61
32761340 2021
10
Dose per muscle in cervical dystonia: pooled data from seven movement disorder centres. 61
33471347 2021
11
A metabolomic study of cervical dystonia. 61
33271463 2021
12
Social cognition in cervical dystonia: phenotype and relationship to anxiety and depression. 61
32896024 2021
13
Brain Structural Changes in Focal Dystonia-What About Task Specificity? A Multimodal MRI Study. 61
32979238 2021
14
We Must Talk about Sex and Focal Dystonia. 61
33503303 2021
15
Neuroimaging in idiopathic adult-onset focal dystonia. 61
33389253 2021
16
Anatomo-sonographic identification of the longissimus capitis and splenius cervicis muscles: principles for possible application to ultrasound-guided botulinum toxin injections in cervical dystonia. 61
33459837 2021
17
Long-Term Successful Outcome of Dystonic Head Tremor after Bilateral Deep Brain Stimulation of the Ventral Intermediate and Ventro-Oral Internus Nuclei: A Case Report and Literature Review of Dystonic Head Tremor. 61
33401264 2021
18
Accuracy of non-guided versus ultrasound-guided injections in cervical muscles: a cadaver study. 61
33399965 2021
19
"Orofacial Dystonia-A Silent Killer": Mandibular Fractures with Orofacial Dystonia, A Report of a Case and Review. 61
33575045 2021
20
The Impact of SARS-CoV-2 Pandemic Lockdown on a Botulinum Toxin Outpatient Clinic in Germany. 61
33573065 2021
21
Comparison of botulinum toxins for treatment of movement disorders: real-world utilization and cost analysis in a national Medicare population. 61
33511895 2021
22
Use of Botulinum Neurotoxin in Parkinson's Disease: A Critical Appraisal. 61
33503872 2021
23
Long-term effects of pallidal and thalamic deep brain stimulation in myoclonus dystonia. 61
33452690 2021
24
Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene. 61
33497502 2021
25
Sustained functional benefits after a single set of injections with abobotulinumtoxinA using a 2-mL injection volume in adults with cervical dystonia: 12-week results from a randomized, double-blind, placebo-controlled phase 3b study. 61
33524060 2021
26
Subjective versus objective symptom intensities ratings in cervical dystonia and hemifacial spasm across a botulinum neurotoxin cycle. 61
33403834 2021
27
Long-term adherence and response to botulinum toxin in different indications. 61
33259153 2021
28
Head tremor and pain in cervical dystonia. 61
33417005 2021
29
Pallidal Deep Brain Stimulation in Patients with Prior Bilateral Pallidotomy and Selective Peripheral Denervation for Treatment of Dystonia. 61
33080617 2021
30
A survey of lifestyle factors in dystonia. 61
33025722 2020
31
Shot in the dark: three patients successfully treated with onabotulinumtoxin A injections for relief of post-traumatic chronic headaches and dystonia induced by gunshot wounds. 61
33370967 2020
32
A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability. 61
32955639 2020
33
Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia. 61
32579704 2020
34
Deep brain stimulation procedure complicated by spontaneously resolved pneumothorax in a patient with cervical dystonia. 61
33274433 2020
35
Improvement in Quality of Life with OnabotulinumtoxinA for Cervical Dystonia: POSTURe. 61
33342445 2020
36
Targeting pain in the long-term treatment of cervical dystonia with botulinum toxin A. 61
33295845 2020
37
The Extreme Ends of the Treatment Response Spectrum to Botulinum Toxin in Cervical Dystonia. 61
33396548 2020
38
Functional and Idiopathic Cervical Dystonia in Two Family Members: A Challenging Diagnosis. 61
33354397 2020
39
Evaluation of improvement in quality of life after acupuncture in a patient with cervical dystonia: a case report. 61
33322914 2020
40
Bilateral pallidal stimulation improves cervical dystonia for more than a decade. 61
33075700 2020
41
It's tricky: Rating alleviating maneuvers in cervical dystonia. 61
33160248 2020
42
Brain connectivity abnormalities and treatment-induced restorations in patients with cervical dystonia. 61
33350546 2020
43
Engineering Botulinum Neurotoxins for Enhanced Therapeutic Applications and Vaccine Development. 61
33374954 2020
44
Burst Spinal Cord Stimulation for the Treatment of Cervical Dystonia with Intractable Pain: A Pilot Study. 61
33171779 2020
45
Emotional well-being and pain could be a greater determinant of quality of life compared to motor severity in cervical dystonia. 61
33146753 2020
46
Reversal of Temporal Discrimination in Cervical Dystonia after Low-Frequency Sensory Stimulation. 61
33159823 2020
47
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype. 61
33200438 2020
48
Tremor-Dominant Cervical Dystonia: a Cerebellar Syndrome. 61
33161481 2020
49
The cerebellum in idiopathic cervical dystonia: A specific pattern of structural abnormalities? 61
33010532 2020
50
Cervical dystonia: factors deteriorating patient satisfaction of long-term treatment with botulinum toxin. 61
32693754 2020
Sources

Variations for Cervical Dystonia

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ClinVar genetic disease variations for Cervical Dystonia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) SNV Pathogenic 210306 rs797045283 6:157528243-157528243 6:157207109-157207109
2 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) SNV Likely pathogenic 549661 rs868064163 3:179304340-179304340 3:179586552-179586552
3 SH3KBP1 GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Uncertain significance 523297 X:19030055-19591281
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Expression for Cervical Dystonia

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

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

# Super pathways Score Top Affiliating Genes
1
CTLA4 Signaling 63
10.98 HLA-DQB1 HLA-DQA1 GNAL
2
Folate biosynthesis 36
Show member pathways
 10.26 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 plasma membrane GO:0005886 10.03 SGCE OR4X2 NALCN HLA-DQB1 HLA-DQA1 GNAL
2 SWI/SNF complex GO:0016514 9.16 ARID1B ACTL6A
3 MHC class II protein complex GO:0042613 8.96 HLA-DQB1 HLA-DQA1
4 clathrin-coated endocytic vesicle membrane GO:0030669 8.8 HLA-DQB1 HLA-DQA1 APOE

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

# Name GO ID Score Top Affiliating Genes
1 nitric oxide biosynthetic process GO:0006809 9.46 SPR GCH1
2 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.43 HLA-DQB1 HLA-DQA1
3 synaptic transmission, dopaminergic GO:0001963 9.4 TH DRD5
4 regulation of protein localization to cell surface GO:2000008 9.37 TOR1A BDNF
5 dopamine biosynthetic process GO:0042416 9.32 TH GCH1
6 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.26 GNAL DRD5
7 mating behavior GO:0007617 9.16 TH DRD5
8 tetrahydrobiopterin biosynthetic process GO:0006729 8.96 SPR GCH1
9 lipoprotein catabolic process GO:0042159 8.62 ATM APOE

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

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.96 HLA-DQB1 HLA-DQA1
2 dopamine binding GO:0035240 8.62 TH DRD5
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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