MCID: DYS154
MIFTS: 65

Dystonia

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia

MalaCards integrated aliases for Dystonia:

Name: Dystonia 12 76 29 6 43 44 15 40
Dystonic Disease 12 73
Dystonia Disorders 73
Dystonias 54

Classifications:



External Ids:

Disease Ontology 12 DOID:543
ICD10 33 G24 G24.9
NCIt 50 C34563
SNOMED-CT 68 15802004

Summaries for Dystonia

MedlinePlus : 43 Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful. Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild. Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions. There is no cure. Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary : Dystonia, also known as dystonic disease, is related to dystonia 12 and dystonia 11, myoclonic, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Dystonia is TOR1A (Torsin Family 1 Member A), and among its related pathways/superpathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and Folate biosynthesis. The drugs Acetylcholine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and cortex, and related phenotypes are behavior/neurological and mortality/aging

NINDS : 54 The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptoms may include deterioration in handwriting, foot cramps, or a dragging foot after running or walking some distance. Other possible symptoms are tremor and voice or speech difficulties. About half the cases of dystonia have no connection to disease or injury and are called primary or idiopathic dystonia. Of the primary dystonias, many cases appear to be inherited. Dystonias can also be symptoms of other diseases, some of which may be hereditary. Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.

Wikipedia : 76 Dystonia is a neurological movement disorder syndrome in which sustained or repetitive muscle... more...

Related Diseases for Dystonia

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia

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

(show top 50) (show all 539)
# Related Disease Score Top Affiliating Genes
1 dystonia 12 34.6 ATP1A3 GCH1 PRKRA SGCE THAP1 TOR1A
2 dystonia 11, myoclonic 34.6 ATP1A3 GCH1 SGCE TH THAP1 TOR1A
3 dystonia 3, torsion, x-linked 34.5 ATP1A3 GCH1 TAF1 THAP1
4 dystonia, dopa-responsive 34.5 ATP1A3 GCH1 PRKRA SGCE SPR TAF1
5 dystonia 1, torsion, autosomal dominant 34.5 GCH1 SGCE TAF1 TH TOR1A
6 cervical dystonia 34.3 GCH1 GNAL THAP1 TOR1A
7 early-onset generalized dystonia 34.3 ANO3 GCH1 PRKRA THAP1 TOR1A
8 dystonia 24 34.3 ANO3 THAP1 TOR1A
9 focal dystonia 34.3 ANO3 DRD2 GNAL SGCE TAF1 THAP1
10 oromandibular dystonia 34.2 GCH1 THAP1 TOR1A
11 spasmodic dystonia 34.0 GNAL THAP1 TOR1A
12 segmental dystonia 33.9 GCH1 THAP1 TOR1A
13 multifocal dystonia 33.9 ATP1A3 PRKRA TOR1A
14 segawa syndrome, autosomal recessive 33.8 GCH1 TH
15 hereditary dystonia 33.7 GCH1 TH TUBB4A
16 lymphedema, hereditary, ii 33.6 GCH1 THAP1 TOR1A
17 spasmodic dysphonia 33.2 THAP1 TOR1A TUBB4A
18 blepharospasm 32.9 GCH1 GNAL THAP1 TIMM8A TOR1A
19 movement disease 32.3 ATP1A3 DRD2 GCH1 SGCE TH TOR1A
20 hemidystonia 32.2 ATP1A3 GCH1 SGCE TAF1 THAP1 TOR1A
21 hyperphenylalaninemia, bh4-deficient, b 32.1 GCH1 TH
22 oculogyric crisis 31.9 ATP1A3 GCH1
23 torticollis 30.9 DRD2 TOR1A
24 3-methylglutaconic aciduria, type iii 30.5 ATP1A3 C19orf12 TIMM8A
25 hyperphenylalaninemia 30.4 GCH1 SPR TH
26 parkinson disease, late-onset 30.3 DRD2 GCH1 SPR TH
27 dystonia 16 12.6
28 dystonia 6, torsion 12.6
29 dystonia 2, torsion, autosomal recessive 12.5
30 dystonia 4, torsion, autosomal dominant 12.5
31 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 12.5
32 dystonia 27 12.5
33 dystonia, juvenile-onset 12.5
34 leber optic atrophy and dystonia 12.4
35 dystonia 25 12.4
36 x-linked dystonia-parkinsonism/lubag 12.4
37 dystonia 23 12.4
38 adolescent-onset dystonia of mixed type 12.4
39 hypermanganesemia with dystonia 1 12.4
40 parkinsonism-dystonia, infantile, 1 12.4
41 dystonia 13, torsion, autosomal dominant 12.4
42 early-onset generalized limb-onset dystonia 12.3
43 dystonia 21 12.3
44 dystonia 9 12.3
45 dystonia 28, childhood-onset 12.3
46 torsion dystonia with onset in infancy 12.3
47 hypermanganesemia with dystonia 12.3
48 leukoencephalopathy with dystonia and motor neuropathy 12.3
49 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 12.3
50 focal hand dystonia 12.3

Graphical network of the top 20 diseases related to Dystonia:



Diseases related to Dystonia

Symptoms & Phenotypes for Dystonia

UMLS symptoms related to Dystonia:


seizures, tremor, myoclonus, dystonia, back pain, pain, headache, torticollis, syncope, opisthotonus, chronic pain, sciatica, vertigo/dizziness, sleeplessness, muscle cramp, spasm, spasmodic torticollis, spasm oropharyngeal, neck cramps

MGI Mouse Phenotypes related to Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ATP1A3 CASK CSTB DRD2 GNAL GNB1
2 mortality/aging MP:0010768 9.93 ATP1A3 CASK DRD2 GCH1 GNAL GNB1
3 muscle MP:0005369 9.5 ATP1A3 CSTB DRD2 MYO5A PRKRA SGCE
4 nervous system MP:0003631 9.44 ATP1A3 CASK CSTB DRD2 GCH1 GNB1

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 191)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-84-3 187
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 4,Phase 3,Phase 2 59-92-7 6047
4
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
5
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
6
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
7
Carbidopa Approved Phase 4,Phase 3,Phase 2 28860-95-9 34359 38101
8
Amantadine Approved Phase 4,Phase 2 768-94-5 2130
9
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 3 525-66-6 4946
10
Ziprasidone Approved Phase 4 146939-27-7 60854
11
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
12
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
13
Ibuprofen Approved Phase 4 15687-27-1 3672
14
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
15
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
16
Rotigotine Approved Phase 4,Phase 3 99755-59-6, 92206-54-7 57537
17
Haloperidol Approved Phase 4 52-86-8 3559
18
Lidocaine Approved, Vet_approved Phase 4,Early Phase 1 137-58-6 3676
19 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
23 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
24 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
25 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
26 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
27 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Carbidopa, levodopa drug combination Phase 4,Phase 3
30 Sympathomimetics Phase 4,Phase 2
31 Dihydroxyphenylalanine Phase 4,Phase 3,Phase 2
32 Cardiotonic Agents Phase 4
33 Protective Agents Phase 4,Phase 3,Phase 2
34 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
35 Antioxidants Phase 4,Phase 3
36 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
37 incobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
38 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
39 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
40 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
41 Immunologic Factors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
42 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Phase 2
45 Antirheumatic Agents Phase 4,Phase 1,Phase 2
46 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
47 Anesthetics, Intravenous Phase 4,Phase 2,Phase 3,Not Applicable
48 Anesthetics, General Phase 4,Phase 2,Phase 3,Not Applicable
49 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2,Not Applicable
50 rimabotulinumtoxinB Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 369)
# 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 Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia Unknown status NCT00142259 Phase 4
3 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
4 Use of Interventional MRI for Implantation of Deep Brain Stimulator Electrodes Unknown status NCT00792532 Phase 4
5 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
6 An Open-Label Tolerability and Exploratory Efficacy Study of Zonisamide for Dyskinesias in Parkinson's Disease Unknown status NCT03034538 Phase 4 Zonegran;Zonegran
7 A Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
8 Botox for Cervical Dystonia Following EMG Mapping Completed NCT00773253 Phase 4 Botulinum toxin A
9 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
10 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
11 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
12 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
13 Daily Dystonia Practice - A Trial to Investigate NT 201, the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Cervical Dystonia Completed NCT00541905 Phase 4 NT 201
14 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
15 Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
16 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
17 Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4 Risperidone and Olanzapine
18 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
19 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
20 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
21 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
22 Functional Effects of Botox on the Brain Using MRS and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
23 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
24 Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
25 Study of Arm and Putter Movement in Golfers With Golfer's Cramp Completed NCT02032758 Phase 4 Propranolol
26 Efficacy and Tolerability of Switching to Ziprasidone From Other Antipsychotics Completed NCT00458211 Phase 4 ziprasidone
27 An Efficacy and Safety Study of Risperidone Long-Acting Microspheres in Participants With Schizophrenia, Schizophreniform or Schizoaffective Disorders Completed NCT01855074 Phase 4 Risperidone
28 A Study to Evaluate Participants Satisfaction, Quality of Life and Effectiveness of Flexible-Dose of Paliperidone Extended Release (ER) in Participants With Schizophrenia, Previously Treated With Risperidone Completed NCT01010776 Phase 4 Paliperidone Extended Release (ER)
29 A Study of the Cataractogenic Potential of Seroquel and Risperdal in the Treatment of Participants With Schizophrenia or Schizoaffective Disorder Completed NCT00206102 Phase 4 quetiapine fumarate;risperidone
30 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4 Fentanyl;Ibuprofen
31 Paliperidone Extended Release in Schizophrenia Participants With Duration of Illness Less Than 10 Years Completed NCT01362439 Phase 4 Paliperidone ER
32 An Efficacy and Safety Study of Long-Term Risperidone Microspheres in Participants With Schizophrenia Completed NCT00269919 Phase 4 Risperidone Long-Acting Injectable (RLAI)
33 Intravenous Ketorolac and Metoclopramide for Pediatric Migraine in the Emergency Department Completed NCT01596166 Phase 4 Ketorolac Tromethamine;Metoclopramide
34 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Active, not recruiting NCT03098368 Phase 4 Rotigotine;Placebo
35 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm Active, not recruiting NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
36 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
37 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
38 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
39 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
40 Ketamine Versus Haloperidol for Severe Agitation Outside the Hospital Withdrawn NCT02103881 Phase 4 Ketamine;Haloperidol
41 Foot Dystonia Treatment by Botulinum Toxin Injections in Parkinson Disease : Efficiency of Injections Made in Extrinsic Muscle (Flexor Digitorum Longus Muscle) Compared to Intrinsic Muscle (Flexor Digitorum Brevis or Quadratus Plantae Muscles) Unknown status NCT00909883 Phase 3 Botulinum Toxin: Xeomin;Placebo
42 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
43 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
44 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor Unknown status NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
45 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3 Botulinum type A toxin (Dysport®)
46 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3 zonegran;placebo
47 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Dysport®;Placebo
48 Deep Brain Stimulation in Treating Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
49 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3 Dysport®
50 Study Comparing Short Term Efficacy of Dysport® and Dysport RU® to Placebo, and to Assess Efficacy and Safety of Dysport RU® of Subjects With Cervical Dystonia Completed NCT01261611 Phase 3 Botulinum type A toxin (Dysport RU®);Botulinum type A toxin (Dysport®);Placebo

Search NIH Clinical Center for Dystonia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: dystonia

Genetic Tests for Dystonia

Genetic tests related to Dystonia:

# Genetic test Affiliating Genes
1 Dystonia 29

Anatomical Context for Dystonia

MalaCards organs/tissues related to Dystonia:

41
Brain, Globus Pallidus, Cortex, Subthalamic Nucleus, Testes, Cerebellum, Spinal Cord

Publications for Dystonia

Articles related to Dystonia:

(show top 50) (show all 3669)
# Title Authors Year
1
Dystonia: diagnosis and management. ( 30035844 )
2019
2
Dopaminergic involvement in a drummer with focal dystonia: A case study. ( 29408773 )
2018
3
An Elderly Woman with Reversal of Clinical Presentation Mimicking Rapid-Onset Dystonia-Parkinsonism. ( 29971984 )
2018
4
Systematic review of botulinum toxin treatment for oromandibular dystonia. ( 29453996 )
2018
5
INTEREST IN CD2, a global patient-centred study of long-term cervical dystonia treatment with botulinum toxin. ( 29270685 )
2018
6
Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia. ( 29913530 )
2018
7
Capecitabine-Related Neurotoxicity Presenting as Oromandibular Dystonia. ( 29303645 )
2018
8
Sensory Trick in a Patient with Cervical Dystonia: Insights from Magnetoencephalography. ( 29565281 )
2018
9
Spread of dystonia in patients with idiopathic adult-onset laryngeal dystonia. ( 29935029 )
2018
10
H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome. ( 29076120 )
2018
11
Stereotactic Selective Thalamotomy for Focal Dystonia with Aid of Depth Microrecording. ( 29909211 )
2018
12
Basal ganglia mechanisms in action selection, plasticity, and dystonia. ( 29396175 )
2018
13
Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant. ( 29449182 )
2018
14
Aripiprazole induced neck dystonia and oculogyric crisis. ( 29453150 )
2018
15
Pedunculopontine Nucleus Cholinergic Deficiency in Cervical Dystonia. ( 29508906 )
2018
16
Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome. ( 29971201 )
2018
17
Speech induced cervical dystonia: An unusual task specific dystonia. ( 29174183 )
2018
18
The effects of a relaxation program featuring aquatic therapy and autogenic training among people with cervical dystonia (a pilot study). ( 29939827 )
2018
19
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH. ( 29405179 )
2018
20
A 500A U/2A mL dilution of abobotulinumtoxinA vs. placebo: randomized study in cervical dystonia. ( 29343142 )
2018
21
Resting-State Pallidal-Cortical Oscillatory Couplings in Patients With Predominant Phasic and Tonic Dystonia. ( 29904367 )
2018
22
Dysfunction in emotion processing underlies functional (psychogenic) dystonia. ( 29124784 )
2018
23
Abnormal cerebellar processing of the neck proprioceptive information drives dysfunctions in cervical dystonia. ( 29396401 )
2018
24
Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review. ( 29405267 )
2018
25
Oromandibular Dystonia-Related Temporomandibular Joint Osteoarthritis: A Case History Report. ( 29723311 )
2018
26
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40a8^years. ( 29429788 )
2018
27
Quantitative Assessment of Hand Dysfunction in Patients with Early Parkinson's Disease and Focal Hand Dystonia. ( 29316781 )
2018
28
Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients. ( 29860784 )
2018
29
Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia. ( 29443021 )
2018
30
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. ( 28778788 )
2018
31
Multilingual website and cyberconsultations for oromandibular dystonia. ( 29844890 )
2018
32
GABA<sub>A</sub> Receptor Availability Changes Underlie Symptoms in Isolated Cervical Dystonia. ( 29670567 )
2018
33
Electromyography analysis and botulinum toxin plan in a pianist with musician's dystonia: a case report. ( 29944922 )
2018
34
Deep brain stimulation for dystonia due to cerebral palsy: A review. ( 29396170 )
2018
35
The premotor syndrome of cervical dystonia: Disordered processing of salient environmental stimuli. ( 29205495 )
2018
36
Protocol for N-of-1 trials proof of concept for rehabilitation of childhood-onset dystonia: Study 1: Protocole des essais de validation A effectif unique pour la rAcadaptation de la dystonie dAcbutant dans l'enfance : A8tude 1. ( 29972044 )
2018
37
Effect of botulinum toxin A &amp;amp; task-specific training on upper limb function in post-stroke focal dystonia. ( 29808039 )
2018
38
Psychodiagnostics: Classification of the Yips Phenomenon based on Musician's Dystonia. ( 29933350 )
2018
39
Personalized botulinum toxin type A therapy for cervical dystonia based on kinematic guidance. ( 29557988 )
2018
40
Rationale for dopa-responsive CTNNB1/A9-catenin deficient dystonia. ( 29436745 )
2018
41
Comparison of dystonia between Parkinson's disease and atypical parkinsonism: The clinical usefulness of dystonia distribution and characteristics in the differential diagnosis of parkinsonism. ( 29196058 )
2018
42
Altered functional connectivity in blepharospasm/orofacial dystonia. ( 29568690 )
2018
43
Long-term quality of life in cervical dystonia after treatment with abobotulinum toxin A: a 2-year prospective study. ( 29731634 )
2018
44
Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. ( 29326293 )
2018
45
Diagnosis and treatment of pediatric onset isolated dystonia. ( 29396174 )
2018
46
High prevalence of olfactory dysfunction in cervical dystonia. ( 29724603 )
2018
47
Neuropsychological Difficulties Associated with Dopa Responsive Dystonia. ( 29899782 )
2018
48
Oromandibular dystonia screening questionnaire for differential diagnosis. ( 29717363 )
2018
49
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment. ( 29952836 )
2018
50
Postural control and the relation with cervical sensorimotor control in patients with idiopathic adult-onset cervical dystonia. ( 29340715 )
2018

Variations for Dystonia

ClinVar genetic disease variations for Dystonia:

6 (show top 50) (show all 650)
# Gene Variation Type Significance SNP ID Assembly Location
1 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic/Likely pathogenic rs80358233 GRCh37 Chromosome 9, 132576341: 132576343
2 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic/Likely pathogenic rs80358233 GRCh38 Chromosome 9, 129814062: 129814064
3 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
4 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297
5 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Likely pathogenic rs121917762 GRCh37 Chromosome 11, 2186957: 2186957
6 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Likely pathogenic rs121917762 GRCh38 Chromosome 11, 2165727: 2165727
7 TH NM_199292.2(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121917763 GRCh37 Chromosome 11, 2189126: 2189126
8 TH NM_199292.2(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121917763 GRCh38 Chromosome 11, 2167896: 2167896
9 TH NM_199292.2(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45471299 GRCh37 Chromosome 11, 2185569: 2185569
10 TH NM_199292.2(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45471299 GRCh38 Chromosome 11, 2164339: 2164339
11 TH NM_199292.2(TH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs80338892 GRCh37 Chromosome 11, 2189135: 2189135
12 TH NM_199292.2(TH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs80338892 GRCh38 Chromosome 11, 2167905: 2167905
13 SPR NM_003124.4(SPR): c.751A> T (p.Lys251Ter) single nucleotide variant Pathogenic rs121917747 GRCh37 Chromosome 2, 73118631: 73118631
14 SPR NM_003124.4(SPR): c.751A> T (p.Lys251Ter) single nucleotide variant Pathogenic rs121917747 GRCh38 Chromosome 2, 72891502: 72891502
15 C19orf12 NM_001031726.3(C19orf12): c.424A> G (p.Lys142Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146170087 GRCh37 Chromosome 19, 30193654: 30193654
16 C19orf12 NM_001031726.3(C19orf12): c.424A> G (p.Lys142Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146170087 GRCh38 Chromosome 19, 29702747: 29702747
17 SLC2A1 NM_006516.2(SLC2A1): c.1011C> T (p.His337=) single nucleotide variant Benign rs2229681 GRCh37 Chromosome 1, 43394666: 43394666
18 SLC2A1 NM_006516.2(SLC2A1): c.1011C> T (p.His337=) single nucleotide variant Benign rs2229681 GRCh38 Chromosome 1, 42928995: 42928995
19 SLC2A1 NM_006516.2(SLC2A1): c.1065A> G (p.Leu355=) single nucleotide variant Benign rs2228490 GRCh37 Chromosome 1, 43394612: 43394612
20 SLC2A1 NM_006516.2(SLC2A1): c.1065A> G (p.Leu355=) single nucleotide variant Benign rs2228490 GRCh38 Chromosome 1, 42928941: 42928941
21 SLC2A1 NM_006516.2(SLC2A1): c.399C> T (p.Cys133=) single nucleotide variant Benign rs11537641 GRCh37 Chromosome 1, 43396414: 43396414
22 SLC2A1 NM_006516.2(SLC2A1): c.399C> T (p.Cys133=) single nucleotide variant Benign rs11537641 GRCh38 Chromosome 1, 42930743: 42930743
23 SLC2A1 NM_006516.2(SLC2A1): c.417C> T (p.Phe139=) single nucleotide variant Benign/Likely benign rs144538918 GRCh37 Chromosome 1, 43396396: 43396396
24 SLC2A1 NM_006516.2(SLC2A1): c.417C> T (p.Phe139=) single nucleotide variant Benign/Likely benign rs144538918 GRCh38 Chromosome 1, 42930725: 42930725
25 SLC2A1 NM_006516.2(SLC2A1): c.45C> T (p.Ala15=) single nucleotide variant Benign rs1385129 GRCh37 Chromosome 1, 43408966: 43408966
26 SLC2A1 NM_006516.2(SLC2A1): c.45C> T (p.Ala15=) single nucleotide variant Benign rs1385129 GRCh38 Chromosome 1, 42943295: 42943295
27 SLC2A1 NM_006516.2(SLC2A1): c.588G> A (p.Pro196=) single nucleotide variant Benign rs2229682 GRCh37 Chromosome 1, 43395635: 43395635
28 SLC2A1 NM_006516.2(SLC2A1): c.588G> A (p.Pro196=) single nucleotide variant Benign rs2229682 GRCh38 Chromosome 1, 42929964: 42929964
29 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> C single nucleotide variant Benign rs13306757 GRCh37 Chromosome 1, 43395537: 43395537
30 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> C single nucleotide variant Benign rs13306757 GRCh38 Chromosome 1, 42929866: 42929866
31 SLC2A1 NM_006516.2(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 GRCh37 Chromosome 1, 43395354: 43395354
32 SLC2A1 NM_006516.2(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 GRCh38 Chromosome 1, 42929683: 42929683
33 SLC2A1 NM_006516.2(SLC2A1): c.966C> T (p.Val322=) single nucleotide variant Benign rs2229680 GRCh37 Chromosome 1, 43394887: 43394887
34 SLC2A1 NM_006516.2(SLC2A1): c.966C> T (p.Val322=) single nucleotide variant Benign rs2229680 GRCh38 Chromosome 1, 42929216: 42929216
35 MRE11 NM_005591.3(MRE11): c.1727G> A (p.Arg576Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139461096 GRCh38 Chromosome 11, 94447275: 94447275
36 MRE11 NM_005591.3(MRE11): c.1727G> A (p.Arg576Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139461096 GRCh37 Chromosome 11, 94180441: 94180441
37 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh37 Chromosome 19, 30193873: 30193873
38 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh38 Chromosome 19, 29702966: 29702966
39 SLC2A1 NM_006516.2(SLC2A1): c.18+12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587781171 GRCh37 Chromosome 1, 43424293: 43424293
40 SLC2A1 NM_006516.2(SLC2A1): c.18+12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587781171 GRCh38 Chromosome 1, 42958622: 42958622
41 SLC2A1 NM_006516.2(SLC2A1): c.27G> A (p.Thr9=) single nucleotide variant Benign/Likely benign rs34025424 GRCh37 Chromosome 1, 43408984: 43408984
42 SLC2A1 NM_006516.2(SLC2A1): c.27G> A (p.Thr9=) single nucleotide variant Benign/Likely benign rs34025424 GRCh38 Chromosome 1, 42943313: 42943313
43 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> T single nucleotide variant Benign/Likely benign rs13306757 GRCh37 Chromosome 1, 43395537: 43395537
44 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> T single nucleotide variant Benign/Likely benign rs13306757 GRCh38 Chromosome 1, 42929866: 42929866
45 SLC2A1 NM_006516.2(SLC2A1): c.1170C> T (p.Ile390=) single nucleotide variant Benign/Likely benign rs2236574 GRCh37 Chromosome 1, 43393384: 43393384
46 SLC2A1 NM_006516.2(SLC2A1): c.1170C> T (p.Ile390=) single nucleotide variant Benign/Likely benign rs2236574 GRCh38 Chromosome 1, 42927713: 42927713
47 SLC2A1 NM_006516.2(SLC2A1): c.1372C> A (p.Arg458=) single nucleotide variant Benign/Likely benign rs13306758 GRCh37 Chromosome 1, 43392819: 43392819
48 SLC2A1 NM_006516.2(SLC2A1): c.1372C> A (p.Arg458=) single nucleotide variant Benign/Likely benign rs13306758 GRCh38 Chromosome 1, 42927148: 42927148
49 SLC2A1 NM_006516.2(SLC2A1): c.1437C> T (p.Pro479=) single nucleotide variant Conflicting interpretations of pathogenicity rs146879902 GRCh37 Chromosome 1, 43392754: 43392754
50 SLC2A1 NM_006516.2(SLC2A1): c.1437C> T (p.Pro479=) single nucleotide variant Conflicting interpretations of pathogenicity rs146879902 GRCh38 Chromosome 1, 42927083: 42927083

Expression for Dystonia

Search GEO for disease gene expression data for Dystonia.

Pathways for Dystonia

Pathways related to Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.14 DRD2 GNB1 TH
2
Show member pathways
10.26 GCH1 SPR TH

GO Terms for Dystonia

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

# Name GO ID Score Top Affiliating Genes
1 synaptic transmission, dopaminergic GO:0001963 9.43 DRD2 TH
2 nitric oxide biosynthetic process GO:0006809 9.4 GCH1 SPR
3 cofactor metabolic process GO:0051186 9.37 GCH1 SPR
4 dopamine biosynthetic process GO:0042416 9.32 GCH1 TH
5 chaperone-mediated protein transport GO:0072321 9.26 TIMM8A TOR1A
6 tetrahydrobiopterin biosynthetic process GO:0006729 9.16 GCH1 SPR
7 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.96 DRD2 TOR1A
8 pigmentation GO:0043473 8.8 DRD2 MYO5A TH

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.26 GCH1 GNAL GNB1 TUBB4A
2 dopamine binding GO:0035240 8.62 DRD2 TH

Sources for Dystonia

3 CDC
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