Aliases & Classifications for Torticollis

MalaCards integrated aliases for Torticollis:

Name: Torticollis 57 73 29 6 32

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
? same as dystonia musculorum


HPO:

31
torticollis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 189600
ICD10 32 M43.6
MedGen 41 C0040485

Summaries for Torticollis

OMIM® : 57 Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997). (189600) (Updated 20-May-2021)

MalaCards based summary : Torticollis is related to cervical dystonia and dysphagia. An important gene associated with Torticollis is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways is Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). The drugs Fentanyl and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and globus pallidus, and related phenotypes are facial asymmetry and torticollis

Wikipedia : 73 Torticollis, also known as wry neck, is a dystonic condition defined by an abnormal, asymmetrical head... more...

Related Diseases for Torticollis

Diseases in the Torticollis family:

Congenital Torticollis

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

(show top 50) (show all 358)
# Related Disease Score Top Affiliating Genes
1 cervical dystonia 32.2 TOR1A CIZ1
2 dysphagia 30.6 POLG ARID1B
3 blepharospasm 30.3 TOR1A CIZ1
4 focal dystonia 30.1 TOR1A DRD2 CIZ1
5 segmental dystonia 30.1 TOR1A CIZ1
6 migraine with or without aura 1 29.8 PRRT2 POLG DRD2 CACNA1A
7 benign familial infantile epilepsy 29.7 PRRT2 CIZ1 CACNA1A
8 alternating hemiplegia of childhood 29.7 PRRT2 CIZ1 CACNA1A
9 oromandibular dystonia 29.7 TOR1A CIZ1
10 dystonia 29.5 TOR1A SCP2 PRRT2 POLG DRD2 CIZ1
11 dystonia 1, torsion, autosomal dominant 29.5 TOR1A CIZ1
12 movement disease 29.3 TOR1A PRRT2 DRD2 CIZ1 CACNA1A
13 choreatic disease 29.1 TOR1A PRRT2 DRD2 CACNA1A
14 disease of mental health 27.5 TSPO TOR1A PRRT2 POLG DRD2 CACNA1A
15 torticollis, keloids, cryptorchidism, and renal dysplasia 11.5
16 congenital torticollis 11.4
17 malignant hyperthermia arthrogryposis torticollis 11.3
18 dystonia 11, myoclonic 11.2
19 leukoencephalopathy with dystonia and motor neuropathy 11.1
20 contractures, congenital, torticollis, and malignant hyperthermia 11.1
21 benign paroxysmal torticollis of infancy 11.0
22 ophthalmoplegia, external, with rib and vertebral anomalies 11.0
23 sandifer syndrome 11.0
24 dystonia 4, torsion, autosomal dominant 10.9
25 bethlem myopathy 1 10.9
26 spinocerebellar ataxia 35 10.9
27 torsion dystonia 17 10.9
28 plagiocephaly 10.5
29 pathologic nystagmus 10.5
30 tremor 10.4
31 scoliosis 10.4
32 strabismus 10.3
33 mechanical strabismus 10.3
34 ataxia and polyneuropathy, adult-onset 10.2
35 migraine, familial hemiplegic, 2 10.2 PRRT2 CACNA1A
36 infancy electroclinical syndrome 10.2 PRRT2 CACNA1A
37 congenital nystagmus 10.2
38 hemifacial spasm, familial 10.2
39 fibromatosis 10.2
40 hemifacial spasm 10.2
41 spinocerebellar ataxia, autosomal recessive 8 10.2 TGM6 CACNA1A
42 gastroesophageal reflux 10.1
43 migraine, familial hemiplegic, 1 10.1 PRRT2 CACNA1A
44 glioma susceptibility 1 10.1
45 osteomyelitis 10.1
46 malignant astrocytoma 10.1
47 central nervous system origin vertigo 10.1 POLG CACNA1A
48 developmental dysplasia of the hip 1 10.1
49 synostosis 10.1
50 clark-baraitser syndrome 10.1 ARID1B ACTL6A

Graphical network of the top 20 diseases related to Torticollis:



Diseases related to Torticollis

Symptoms & Phenotypes for Torticollis

Human phenotypes related to Torticollis:

31
# Description HPO Frequency HPO Source Accession
1 facial asymmetry 31 HP:0000324
2 torticollis 31 HP:0000473

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Facies:
facial asymmetry

Neck:
torticollis

Clinical features from OMIM®:

189600 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Torticollis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ARID1B BAX CACNA1A CIZ1 DRD2 MYF5
2 growth/size/body region MP:0005378 10.1 ARID1B BAX CACNA1A CIZ1 DRD2 MYF5
3 cellular MP:0005384 10.02 ACTL6A BAX CACNA1A CIZ1 DRD2 MYF5
4 hematopoietic system MP:0005397 9.96 ACTL6A ARID1B ASPN BAX CACNA1A CIZ1
5 homeostasis/metabolism MP:0005376 9.93 ARID1B ASPN BAX CACNA1A DRD2 MYF5
6 immune system MP:0005387 9.73 ACTL6A ARID1B BAX CACNA1A CIZ1 DRD2
7 muscle MP:0005369 9.23 ARID1B BAX CACNA1A DRD2 MYF5 POLG

Drugs & Therapeutics for Torticollis

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
3
Ibuprofen Approved Phase 4 15687-27-1 3672
4
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
5 Pharmaceutical Solutions Phase 4
6 incobotulinumtoxinA Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Antirheumatic Agents Phase 4
9 Narcotics Phase 4
10 Anesthetics, General Phase 4
11 Anesthetics Phase 4
12 Anesthetics, Intravenous Phase 4
13 Analgesics Phase 4
14 Cyclooxygenase Inhibitors Phase 4
15 Analgesics, Opioid Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 rimabotulinumtoxinB Phase 4
19 Neurotransmitter Agents Phase 4
20 abobotulinumtoxinA Phase 4
21 Cholinergic Agents Phase 4
22 Botulinum Toxins, Type A Phase 4
23 Botulinum Toxins Phase 4
24
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
25
Levetiracetam Approved Phase 2 102767-28-2 441341
26 Psychotropic Drugs Phase 2
27 Hormones Phase 2
28 Hormone Antagonists Phase 2
29 Hallucinogens Phase 2
30 Anticonvulsants Phase 2
31 Nootropic Agents Phase 2
32
Trihexyphenidyl Approved 144-11-6, 58947-95-8 5572
33
Methylprednisolone Approved, Vet_approved 83-43-2 6741
34
Prednisolone Approved, Vet_approved 50-24-8 5755
35
Prednisolone acetate Approved, Vet_approved 52-21-1
36
Methylprednisolone hemisuccinate Approved 2921-57-5
37
Prednisolone phosphate Approved, Vet_approved 302-25-0
38
tannic acid Approved 1401-55-4
39
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
40
Triamcinolone Approved, Vet_approved 124-94-7 31307
41
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
42
Prednisolone hemisuccinate Experimental 2920-86-7
43
Cortisone Experimental 53-06-5 222786
44 Cholinergic Antagonists
45 Antiparkinson Agents
46 Muscarinic Antagonists
47 Methylprednisolone Acetate
48 Triamcinolone hexacetonide
49 Triamcinolone diacetate
50 triamcinolone acetonide

Interventional clinical trials:

(show top 50) (show all 108)
# 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 Randomized Controlled Trial of the Postoperative Analgesic Efficacy of Ultrasound Guided Intermediate Cervical Plexus Block for Unipolar Sternocleidomastoid Release in Patient With Congenital Muscular Torticollis Completed NCT02651311 Phase 4 Fentanyl;Ibuprofen
3 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
4 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
5 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
6 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
7 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)
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 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
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 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
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 Comparison of Temporomandibular Joint Arthroscopy With Botulinum Toxin Injection Versus Placebo: a Randomized Clinical Trial Recruiting NCT04810429 Phase 4 Incobotulinumoxin A
14 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
15 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
16 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
17 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 Completed NCT03805152 Phase 3 Neuronox(R);Dysport (R)
18 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
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 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
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 Effectiveness and Safety of Local Endoscopically-assisted Administration of Autologous Adipose-derived Regenerative Cells for Reduction of Risk of Postoperative Bladder Neck Contracture in Male Patients Unknown status NCT02869061 Phase 1, Phase 2
30 Phase II, Double Blind, Randomized, Placebo Controlled Trial of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
31 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
32 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
33 Dose-escalating Safety and Preliminary Efficacy of DaxibotulinumtoxinA for Injection in Cervical Dystonia Completed NCT02706795 Phase 2
34 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
35 Study for Determine the Safety and Efficacy of Clostridium Botulinum Toxin Type A in Subjects With Cervical Dystonia Completed NCT01588574 Phase 2
36 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2 Normal Saline
37 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
38 A Dose-response, Randomized, Double-blind Study to Evaluate the Effect of Type-A Botulinum Toxin in the Post-radiosurgical Neck Contractures Completed NCT02986880 Phase 2 Botulinum toxin A
39 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
40 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
41 Prospective Double Blind Evaluation of Levetiracetam (Keppra) for the Treatment of Cervical Dystonia Terminated NCT00760318 Phase 2 Keppra
42 Effectiveness of Botulinum Toxin Injection After Exercising Splenius Capitis Muscle in Patients With Cervical Dystonia Unknown status NCT01041157 Phase 1
43 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
44 Deep Brain Stimulation of the Globus Pallidus Interna or the Subthalamic Nucleus for Treatment of Primary Cervical Dystonia Completed NCT00132340 Phase 1
45 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]
46 Comparative Trial of Botox Versus Conventional Treatment Used in the Management of Children With Congenital Muscular Torticollis (CMT) Withdrawn NCT00175604 Phase 1 Botox
47 Result of Bipolar Surgical Release in Congenital Muscular Torticollis Unknown status NCT03562260
48 A Randomized Controlled Study in the Efficiency of Soft Tissue Mobilization in Babies With Congenital Muscular Torticollis and Deformational Plagiocephaly Unknown status NCT02403011
49 Functional Magnetic Resonance and Diffusion Tensor Imaging in the Preoperative Assessment of Dystonia Unknown status NCT02877836
50 Subthalamic Deep Brain Stimulation in Patients With Medication-Refractory Primary Cranial-Cervical Dystonia: A Randomised, Sham-controlled Trial Unknown status NCT02583074

Search NIH Clinical Center for Torticollis

Genetic Tests for Torticollis

Genetic tests related to Torticollis:

# Genetic test Affiliating Genes
1 Torticollis 29

Anatomical Context for Torticollis

MalaCards organs/tissues related to Torticollis:

40
Brain, Spinal Cord, Globus Pallidus, Eye, Subthalamic Nucleus, Thalamus, Bone

Publications for Torticollis

Articles related to Torticollis:

(show top 50) (show all 3312)
# Title Authors PMID Year
1
Congenital muscular torticollis: is heredity a possible factor in a family with five torticollis patients in three generations? 57 61
9091917 1997
2
Familial spasmodic torticollis. 61 57
556814 1977
3
TORTICOLLIS: AN ANALYSIS OF 271 CASES. 57 61
14231376 1965
4
Congenital muscular torticollis. Hemato ma, fact or myth. 61 57
13896776 1962
5
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them. 61
33438813 2021
6
Bilateral sternocleidomastoid pseudotumors-a case report and literature review. 61
33664922 2021
7
Osteoid Osteoma of the Atlas in a Boy: Clinical and Imaging Features-A Case Report and Review of the Literature. 61
33111305 2021
8
Non-epileptic paroxysmal events in paediatric patients: A single tertiary centre study in Egypt. 61
33607445 2021
9
Long-term ophthalmic outcomes in 120 children with unilateral coronal synostosis: a 20-year retrospective analysis. 61
33716150 2021
10
Torticollis in infants with neonatal abstinence syndrome. 61
31907397 2021
11
Emergence and molecular characterization of pigeon Paramyxovirus-1 in non-native Eurasian collared doves (Streptopelia decaocto) in California, USA. 61
33727141 2021
12
[Rolf Hassler: from leucotomy to stereotaxy]. 61
32548758 2021
13
Early surgical intervention enhances recovery of severe pediatric deep neck infection patients. 61
33799100 2021
14
Binocular integration and stereopsis in children with television torticollis. 61
33627106 2021
15
A Quantitative Analysis of Facial Asymmetry in Torticollis Using 3-Dimensional Photogrammetry. 61
33593100 2021
16
Development of a questionnaire to identify ocular torticollis. 61
32979091 2021
17
Video interpretation and diagnosis of pediatric amblyopia and eye disease. 61
31364472 2021
18
Benign paroxysmal torticollis: phenotype, natural history, and quality of life. 61
33564129 2021
19
Quantitative imaging of tongue kinematics during infant feeding and adult swallowing reveals highly conserved patterns. 61
33547883 2021
20
A Rare Case of Nontraumatic Atlantoaxial Rotatory Fixation in an Adult Patient Treated by a Closed Reduction: A Case Report. 61
33599465 2021
21
Effectiveness of pediatric integrative manual therapy in cervical movement limitation in infants with positional plagiocephaly: a randomized controlled trial. 61
33632268 2021
22
Association of Positional Plagiocephaly and Developmental Delay Within a Primary Care Network. 61
33538454 2021
23
Atlantoaxial rotatory subluxation/fixation and Grisel's syndrome in children: clinical and radiological prognostic factors. 61
33064218 2021
24
C2 semisegmented hemivertebra - a rare anomaly presenting with torticollis. 61
33507116 2021
25
Fever, Torticollis, and Rash in a Young Boy-Is This Kawasaki Disease? 61
31743265 2021
26
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
27
Histiocytosis in the pediatric spine: a clinical and radiographic analysis of 50 patients. 61
33400235 2021
28
Pallidal Deep Brain Stimulation in Patients with Prior Bilateral Pallidotomy and Selective Peripheral Denervation for Treatment of Dystonia. 61
33080617 2021
29
Natural History, Neuroradiological Workup, and Management Options of Chronic Atlantoaxial Rotatory Fixation Caused by Drug-Induced Cervical Dystonia. 61
33763273 2021
30
Atypical presentations of idiopathic intracranial hypertension. 61
33767953 2021
31
Clinical Improvement After Treatment With IncobotulinumtoxinA (XEOMIN®) in Patients With Cervical Dystonia Resistant to Botulinum Toxin Preparations Containing Complexing Proteins. 61
33633680 2021
32
Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature. 61
33388073 2021
33
Head tremor and pain in cervical dystonia. 61
33417005 2021
34
Fibromatosis colli leading to positional plagiocephaly with gross anatomical and sonographic correlation. 61
33431471 2021
35
Phenotypic evaluation of a childhood-onset parkinsonism-dystonia mouse model with inherent postural abnormalities. 61
33147520 2021
36
Correlations between the Clinical and Ultrasonographic Parameters of Congenital Muscular Torticollis without a Sternocleidomastoid Mass. 61
32729272 2020
37
Pyogenic Atlantoaxial Rotational Dislocation Representing Adult Torticollis with Vertebral Artery Occlusion: A Case Report and Review. 61
32889186 2020
38
Improvement in Quality of Life with OnabotulinumtoxinA for Cervical Dystonia: POSTURe. 61
33342445 2020
39
Brain connectivity abnormalities and treatment-induced restorations in patients with cervical dystonia. 61
33350546 2020
40
Surgical treatment of rostrotentorial meningioma complicated by foraminal herniation in the cat. 61
32478635 2020
41
Bilateral pallidal stimulation improves cervical dystonia for more than a decade. 61
33075700 2020
42
Langerhans cell histiocytosis in the occipital condyle: a case study and a brief review of the literature. 61
33310824 2020
43
Primary treatment of atlantoaxial rotatory fixation in children: a multicenter, retrospective series of 125 cases. 61
33276329 2020
44
An outbreak of Pullorum disease in a young layer parent flock in Austria presented with central nervous system signs. 61
33275157 2020
45
[Anesthesia in patients with dopa-responsive dystonia (Segawa syndrome) : Presentation of the pathophysiology, clinical picture and approach based on two case reports]. 61
33294947 2020
46
Outbreaks of Streptococcus gallolyticus subsp. pasteurianus in goslings characterized by central nervous symptoms. 61
33284329 2020
47
It's tricky: Rating alleviating maneuvers in cervical dystonia. 61
33160248 2020
48
Atlantoaxial rotatory subluxation presenting as acute torticollis after mild trauma. 61
32952749 2020
49
Congenital Osseous Torticollis that Mimics Congenital Muscular Torticollis: A Retrospective Observational Study. 61
33202872 2020
50
Congenital muscular torticollis: the reliability of visual estimation in the assessment of cervical spine active rotation and head tilt by physiotherapists and the impact of clinical experience. 61
32468158 2020

Variations for Torticollis

ClinVar genetic disease variations for Torticollis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARID1B NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) SNV Pathogenic 210306 rs797045283 GRCh37: 6:157528243-157528243
GRCh38: 6:157207109-157207109
2 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) SNV Likely pathogenic 549661 rs868064163 GRCh37: 3:179304340-179304340
GRCh38: 3:179586552-179586552
3 overlap with 4 genes GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Uncertain significance 523297 GRCh37: X:19030055-19591281
GRCh38:

Expression for Torticollis

Search GEO for disease gene expression data for Torticollis.

Pathways for Torticollis

Pathways related to Torticollis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
9.77 TSPO SCP2

GO Terms for Torticollis

Cellular components related to Torticollis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.35 TOR1A PRRT2 DRD2 CACNA1A ARID1B
2 SWI/SNF complex GO:0016514 8.62 ARID1B ACTL6A

Biological processes related to Torticollis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent chromatin remodeling GO:0043044 9.32 ARID1B ACTL6A
2 response to gamma radiation GO:0010332 9.26 POLG BAX
3 response to light stimulus GO:0009416 9.16 POLG DRD2
4 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.96 TOR1A DRD2
5 response to axon injury GO:0048678 8.8 TSPO DRD2 BAX

Sources for Torticollis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
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