Aliases & Classifications for Torticollis

MalaCards integrated aliases for Torticollis:

Name: Torticollis 57 74 29 6 32

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 05-Mar-2021)

MalaCards based summary : Torticollis is related to dystonia 11, myoclonic and cervical dystonia. 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 : 74 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 338)
# Related Disease Score Top Affiliating Genes
1 dystonia 11, myoclonic 31.6 TOR1A DRD2 CIZ1
2 cervical dystonia 31.5 TOR1A CIZ1 ARID1B ACTL6A
3 blepharospasm 30.5 TOR1A CIZ1
4 focal dystonia 30.4 TOR1A DRD2 CIZ1
5 segmental dystonia 30.3 TOR1A CIZ1
6 dystonia 30.2 TOR1A SCP2 PRRT2 DRD2 CIZ1 CACNA1A
7 oromandibular dystonia 29.9 TOR1A CIZ1
8 dystonia 1, torsion, autosomal dominant 29.7 TOR1A CIZ1
9 migraine with or without aura 1 29.6 PRRT2 DRD2 CACNA1A
10 benign familial infantile epilepsy 29.6 PRRT2 CIZ1 CACNA1A
11 alternating hemiplegia of childhood 29.6 PRRT2 CIZ1 CACNA1A
12 movement disease 29.5 TOR1A PRRT2 DRD2 CIZ1 CACNA1A
13 choreatic disease 29.3 TOR1A PRRT2 DRD2 CACNA1A
14 torticollis, keloids, cryptorchidism, and renal dysplasia 11.5
15 congenital torticollis 11.4
16 malignant hyperthermia arthrogryposis torticollis 11.3
17 leukoencephalopathy with dystonia and motor neuropathy 11.1
18 contractures, congenital, torticollis, and malignant hyperthermia 11.1
19 benign paroxysmal torticollis of infancy 11.0
20 ophthalmoplegia, external, with rib and vertebral anomalies 11.0
21 sandifer syndrome 11.0
22 dystonia 4, torsion, autosomal dominant 10.9
23 bethlem myopathy 1 10.9
24 spinocerebellar ataxia 35 10.9
25 torsion dystonia 17 10.9
26 plagiocephaly 10.5
27 pathologic nystagmus 10.5
28 tremor 10.4
29 scoliosis 10.4
30 dysphagia 10.4
31 strabismus 10.3
32 mechanical strabismus 10.3
33 ataxia and polyneuropathy, adult-onset 10.2
34 congenital nystagmus 10.2
35 hemifacial spasm, familial 10.2
36 fibromatosis 10.2
37 hemifacial spasm 10.2
38 gastroesophageal reflux 10.2
39 migraine, familial hemiplegic, 3 10.1 PRRT2 CACNA1A
40 hemidystonia 10.1 TOR1A CACNA1A
41 glioma susceptibility 1 10.1
42 osteomyelitis 10.1
43 malignant astrocytoma 10.1
44 torsion dystonia 2 10.1 TOR1A CIZ1
45 migraine, familial hemiplegic, 2 10.1 PRRT2 CACNA1A
46 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.1 TGM6 CACNA1A
47 gluten allergy 10.1 TOR1A TGM6
48 torsion dystonia 4 10.1 TOR1A CIZ1
49 developmental dysplasia of the hip 1 10.1
50 synostosis 10.1

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 05-Mar-2021)
Facies:
facial asymmetry

Neck:
torticollis

Clinical features from OMIM®:

189600 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Torticollis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ARID1B BAX CACNA1A CIZ1 DRD2 MYF5
2 growth/size/body region MP:0005378 10.06 ARID1B BAX CACNA1A CIZ1 DRD2 MYF5
3 hematopoietic system MP:0005397 9.91 ACTL6A ARID1B ASPN BAX CACNA1A CIZ1
4 homeostasis/metabolism MP:0005376 9.9 ARID1B ASPN BAX CACNA1A DRD2 MYF5
5 immune system MP:0005387 9.65 ACTL6A ARID1B BAX CACNA1A CIZ1 DRD2
6 muscle MP:0005369 9.17 ARID1B BAX CACNA1A DRD2 MYF5 PRRT2

Drugs & Therapeutics for Torticollis

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

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

Interventional clinical trials:

(show top 50) (show all 107)
# 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 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
4 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 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 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 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
9 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
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 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
12 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)
13 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
14 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
15 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
16 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
17 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
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 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
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 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
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 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
24 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
25 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
26 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
27 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)
28 Phase II, Double Blind, Randomized, Placebo Controlled Trial of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
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 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
31 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
32 Dose-escalating Safety and Preliminary Efficacy of DaxibotulinumtoxinA for Injection in Cervical Dystonia Completed NCT02706795 Phase 2
33 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
34 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2 Normal Saline
35 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
36 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
37 Study for Determine the Safety and Efficacy of Clostridium Botulinum Toxin Type A in Subjects With Cervical Dystonia Completed NCT01588574 Phase 2
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 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
40 Prospective Double Blind Evaluation of Levetiracetam (Keppra) for the Treatment of Cervical Dystonia Terminated NCT00760318 Phase 2 Keppra
41 Effectiveness of Botulinum Toxin Injection After Exercising Splenius Capitis Muscle in Patients With Cervical Dystonia Unknown status NCT01041157 Phase 1
42 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
43 Deep Brain Stimulation of the Globus Pallidus Interna or the Subthalamic Nucleus for Treatment of Primary Cervical Dystonia Completed NCT00132340 Phase 1
44 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]
45 Comparative Trial of Botox Versus Conventional Treatment Used in the Management of Children With Congenital Muscular Torticollis (CMT) Withdrawn NCT00175604 Phase 1 Botox
46 Result of Bipolar Surgical Release in Congenital Muscular Torticollis Unknown status NCT03562260
47 A Randomized Controlled Study in the Efficiency of Soft Tissue Mobilization in Babies With Congenital Muscular Torticollis and Deformational Plagiocephaly Unknown status NCT02403011
48 Subthalamic Deep Brain Stimulation in Patients With Medication-Refractory Primary Cranial-Cervical Dystonia: A Randomised, Sham-controlled Trial Unknown status NCT02583074
49 Functional Magnetic Resonance and Diffusion Tensor Imaging in the Preoperative Assessment of Dystonia Unknown status NCT02877836
50 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

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, Bone, Thalamus

Publications for Torticollis

Articles related to Torticollis:

(show top 50) (show all 3294)
# Title Authors PMID Year
1
Congenital muscular torticollis: is heredity a possible factor in a family with five torticollis patients in three generations? 61 57
9091917 1997
2
Familial spasmodic torticollis. 57 61
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
Benign paroxysmal torticollis: phenotype, natural history, and quality of life. 61
33564129 2021
6
Non-epileptic paroxysmal events in paediatric patients: A single tertiary centre study in Egypt. 61
33607445 2021
7
Video interpretation and diagnosis of pediatric amblyopia and eye disease. 61
31364472 2021
8
A Quantitative Analysis of Facial Asymmetry in Torticollis Using 3-Dimensional Photogrammetry. 61
33593100 2021
9
Development of a questionnaire to identify ocular torticollis. 61
32979091 2021
10
A Rare Case of Nontraumatic Atlantoaxial Rotatory Fixation in an Adult Patient Treated by a Closed Reduction: A Case Report. 61
33599465 2021
11
Association of Positional Plagiocephaly and Developmental Delay Within a Primary Care Network. 61
33538454 2021
12
Atlantoaxial rotatory subluxation/fixation and Grisel's syndrome in children: clinical and radiological prognostic factors. 61
33064218 2021
13
Quantitative imaging of tongue kinematics during infant feeding and adult swallowing reveals highly conserved patterns. 61
33547883 2021
14
Fever, Torticollis, and Rash in a Young Boy-Is This Kawasaki Disease? 61
31743265 2021
15
C2 semisegmented hemivertebra - a rare anomaly presenting with torticollis. 61
33507116 2021
16
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
17
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
18
Phenotypic evaluation of a childhood-onset parkinsonism-dystonia mouse model with inherent postural abnormalities. 61
33147520 2021
19
Histiocytosis in the pediatric spine: a clinical and radiographic analysis of 50 patients. 61
33400235 2021
20
Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature. 61
33388073 2021
21
Fibromatosis colli leading to positional plagiocephaly with gross anatomical and sonographic correlation. 61
33431471 2021
22
Head tremor and pain in cervical dystonia. 61
33417005 2021
23
Pallidal Deep Brain Stimulation in Patients with Prior Bilateral Pallidotomy and Selective Peripheral Denervation for Treatment of Dystonia. 61
33080617 2021
24
Correlations between the Clinical and Ultrasonographic Parameters of Congenital Muscular Torticollis without a Sternocleidomastoid Mass. 61
32729272 2020
25
Pyogenic Atlantoaxial Rotational Dislocation Representing Adult Torticollis with Vertebral Artery Occlusion: A Case Report and Review. 61
32889186 2020
26
Langerhans cell histiocytosis in the occipital condyle: a case study and a brief review of the literature. 61
33310824 2020
27
[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
28
Bilateral pallidal stimulation improves cervical dystonia for more than a decade. 61
33075700 2020
29
Surgical treatment of rostrotentorial meningioma complicated by foraminal herniation in the cat. 61
32478635 2020
30
Outbreaks of Streptococcus gallolyticus subsp. pasteurianus in goslings characterized by central nervous symptoms. 61
33284329 2020
31
It's tricky: Rating alleviating maneuvers in cervical dystonia. 61
33160248 2020
32
An outbreak of Pullorum disease in a young layer parent flock in Austria presented with central nervous system signs. 61
33275157 2020
33
Primary treatment of atlantoaxial rotatory fixation in children: a multicenter, retrospective series of 125 cases. 61
33276329 2020
34
Brain connectivity abnormalities and treatment-induced restorations in patients with cervical dystonia. 61
33350546 2020
35
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
36
Atlantoaxial rotatory subluxation presenting as acute torticollis after mild trauma. 61
32952749 2020
37
A Case Report of B-cell Lymphoblastic Leukemia/Lymphoma Presenting as Isolated Torticollis in a 2-year-old Female. 61
33217283 2020
38
Congenital Osseous Torticollis that Mimics Congenital Muscular Torticollis: A Retrospective Observational Study. 61
33202872 2020
39
The Effectiveness and Safety of Botulinum Toxin Injections for the Treatment of Congenital Muscular Torticollis. 61
33136847 2020
40
Acute Torticollis in a 3-year-old Child: Think Outside the Neck. 61
33139413 2020
41
Advanced Simultaneous Isolation, Culture, and Identification of Myoblasts and Fibroblasts From Sternocleidomastoid Muscle of Congenital Muscular Torticollis. 61
33136893 2020
42
Botulinum toxin type A therapy for cervical dystonia. 61
33180963 2020
43
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. 61
32858208 2020
44
Adjustable graded augmentation of superior rectus transposition for treatment of abducens nerve palsy and Duane syndrome. 61
32977023 2020
45
Spinal cord subependymoma mimicking syringomyelia in a child: a case report. 61
33108520 2020
46
Experiences of Parents of Infants Diagnosed With Mild or Severe Grades of Congenital Muscular Torticollis. 61
32991556 2020
47
Associations Between Congenital Muscular Torticollis Severity and Physical Therapy Episode. 61
32925812 2020
48
Commentary on "Associations Between Congenital Muscular Torticollis Severity and Physical Therapy Episode". 61
32991555 2020
49
Commentary on "Experiences of Parents of Infants Diagnosed With Mild or Severe Grades of Congenital Muscular Torticollis". 61
32991557 2020
50
Three-dimensional stereophotogrammetry measurement of facial asymmetry in patients with congenital muscular torticollis: a non-invasive method. 61
33069517 2020

Variations for Torticollis

ClinVar genetic disease variations for Torticollis:

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

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 9.02 TOR1A PRRT2 DRD2 CACNA1A ARID1B
2 SWI/SNF complex GO:0016514 8.96 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 9.16 ARID1B ACTL6A
2 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.96 TOR1A DRD2
3 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
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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