MCID: DYS154
MIFTS: 61

Dystonia

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

Aliases & Classifications for Dystonia

MalaCards integrated aliases for Dystonia:

Name: Dystonia 12 72 28 40 41 14
Dystonic Disease 12 69
Dystonia Disorders 69
Dystonias 50

Classifications:



External Ids:

Disease Ontology 12 DOID:543
ICD10 32 G24 G24.9
NCIt 46 C34563

Summaries for Dystonia

MedlinePlus : 40 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 11, myoclonic and dystonia 3, torsion, x-linked, and has symptoms including sleeplessness, neck cramps and vertigo/dizziness. An important gene associated with Dystonia is TOR1A (Torsin Family 1 Member A), and among its related pathways/superpathways is Folate biosynthesis. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and globus pallidus.

NINDS : 50 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 : 72 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

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

(show top 50) (show all 470)
# Related Disease Score Top Affiliating Genes
1 dystonia 11, myoclonic 34.6 ATP1A3 GCH1 SGCE THAP1 TOR1A
2 dystonia 3, torsion, x-linked 34.6 ATP1A3 GCH1 TAF1 THAP1
3 dystonia 1, torsion, autosomal dominant 34.5 GCH1 SGCE TAF1 TOR1A
4 dystonia 12 34.5 ATP1A3 GCH1 PRKRA SGCE THAP1 TOR1A
5 early-onset generalized dystonia 34.4 ANO3 GCH1 THAP1 TOR1A
6 cervical dystonia 34.3 GCH1 GNAL TOR1A
7 oromandibular dystonia 34.3 GCH1 THAP1 TOR1A
8 dystonia, dopa-responsive 34.2 ATP1A3 GCH1 PRKRA SGCE SPR TAF1
9 dystonia 24 34.2 ANO3 THAP1 TOR1A
10 focal dystonia 34.1 ANO3 GNAL SGCE TAF1 THAP1 TIMM8A
11 spasmodic dystonia 34.1 GNAL THAP1 TOR1A
12 cranio-facial dystonia 34.1 GCH1 THAP1 TOR1A
13 segmental dystonia 34.0 GCH1 THAP1 TOR1A
14 multifocal dystonia 34.0 ATP1A3 PRKRA TOR1A
15 hypermanganesemia with dystonia 34.0 SLC30A10 SLC39A14
16 focal hand dystonia 33.8 THAP1 TOR1A
17 lymphedema, hereditary, ii 33.7 GCH1 THAP1 TOR1A
18 hereditary dystonia 33.7 GCH1 TUBB4A
19 spasmodic dysphonia 33.3 THAP1 TOR1A TUBB4A
20 blepharospasm 32.9 GCH1 GNAL THAP1 TIMM8A TOR1A
21 hemidystonia 32.1 ATP1A3 GCH1 SGCE TAF1 THAP1 TOR1A
22 thiamine metabolism dysfunction syndrome 2 31.7 GCH1 TOR1A
23 tetrahydrobiopterin deficiency 29.5 GCH1 SPR
24 dystonia 16 12.4
25 dystonia 6, torsion 12.4
26 dystonia 2, torsion, autosomal recessive 12.4
27 dystonia 4, torsion, autosomal dominant 12.3
28 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 12.3
29 dystonia 27 12.3
30 dystonia, juvenile-onset 12.3
31 leber optic atrophy and dystonia 12.3
32 dystonia 13, torsion, autosomal dominant 12.3
33 adolescent-onset dystonia of mixed type 12.3
34 x-linked dystonia-parkinsonism/lubag 12.3
35 dystonia 25 12.3
36 dystonia 21 12.3
37 dystonia 23 12.3
38 hypermanganesemia with dystonia 1 12.2
39 parkinsonism-dystonia, infantile 12.2
40 early-onset generalized limb-onset dystonia 12.2
41 torsion dystonia with onset in infancy 12.2
42 dystonia 7, torsion 12.2
43 dystonia 9 12.1
44 leukoencephalopathy with dystonia and motor neuropathy 12.1
45 dystonia 26, myoclonic 12.1
46 torsion dystonia 2 12.1
47 deafness, dystonia, and cerebral hypomyelination 12.1
48 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 12.1
49 dystonia 15, myoclonic 12.1
50 segawa syndrome, autosomal recessive 12.1

Graphical network of the top 20 diseases related to Dystonia:



Diseases related to Dystonia

Symptoms & Phenotypes for Dystonia

UMLS symptoms related to Dystonia:


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

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 165)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4,Phase 3 59-92-7 6047
3
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
4
Menthol Approved Phase 4 2216-51-5 16666
5
Ibuprofen Approved Phase 4 15687-27-1 3672
6
Propranolol Approved, Investigational Phase 4 525-66-6 4946
7
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
8
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
9
Carbidopa Approved Phase 4 28860-95-9 38101 34359
10
Amantadine Approved Phase 4 768-94-5 2130
11
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
12
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
15 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
16 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
17 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2
19 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
20 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
22 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
23 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
24 Anesthetics, General Phase 4,Phase 2,Phase 3
25 Anesthetics, Intravenous Phase 4,Phase 2,Phase 3
26 Dihydroxyphenylalanine Phase 4,Phase 3,Early Phase 1
27 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
30 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
31 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Phase 2
32 Protective Agents Phase 4,Phase 3,Phase 2
33 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
34 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
35 Antirheumatic Agents Phase 4,Phase 1,Phase 2
36 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
37 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2
38 Carbidopa, levodopa drug combination Phase 4
39
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
40 Dopamine agonists Phase 4,Phase 3
41 Adjuvants, Anesthesia Phase 4,Phase 2,Phase 3
42 rimabotulinumtoxinB Phase 4,Phase 2,Phase 1
43 Adjuvants, Immunologic Phase 4
44 Adrenergic Agents Phase 4,Phase 3,Phase 2
45 Serotonin Agents Phase 4,Phase 3,Phase 2
46 Serotonin Antagonists Phase 4,Phase 2
47 Serotonin Uptake Inhibitors Phase 4,Phase 3
48 Adrenergic Antagonists Phase 4
49 Sodium Channel Blockers Phase 4,Phase 2
50 N 0437 Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 301)

# 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 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
5 Botox for Cervical Dystonia Following EMG Mapping Completed NCT00773253 Phase 4 Botulinum toxin A
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 Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
8 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
9 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
10 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
11 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958 Phase 4
12 Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
13 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
14 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
15 Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4 Risperidone and Olanzapine
16 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
17 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
18 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
19 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
20 Functional Effects of Botox on the Brain Using MRS and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
21 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
22 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
23 Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
24 Study of Arm and Putter Movement in Golfers With Golfer's Cramp Completed NCT02032758 Phase 4 Propranolol
25 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4 Fentanyl;Ibuprofen
26 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Recruiting NCT02618889 Phase 4
27 Comparison of the Efficacy of Double Monopolar Versus Interleaving Stimulation Modes for Pallidal Deep Brain Stimulation Recruiting NCT01497639 Phase 4
28 Use of Interventional MRI for Implantation of Deep Brain Stimulator Electrodes Recruiting NCT00792532 Phase 4
29 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Active, not recruiting NCT03098368 Phase 4 Rotigotine;Placebo
30 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
31 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
32 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
33 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
34 Ketamine Versus Haloperidol for Severe Agitation Outside the Hospital Withdrawn NCT02103881 Phase 4 Ketamine;Haloperidol
35 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
36 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
37 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
38 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3 Botulinum type A toxin (Dysport®)
39 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3 zonegran;placebo
40 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Dysport®;Placebo
41 Deep Brain Stimulation in Treating Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
42 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3 Dysport®
43 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
44 Double-blind, Multicenter Study to Assess the Efficacy of Bilateral Pallidal Stimulation in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
45 Randomized, Placebo-Controlled Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3 Botulinum type A toxin (Dysport®);Placebo
46 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3 incobotulinumtoxinA (Xeomin) (240 Units);incobotulinumtoxinA (Xeomin) (120 Units);Placebo
47 Open-label Extension Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3 abobotulinumtoxinA (Dysport) 250-1000 units
48 A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3 Deferiprone oral solution;Placebo oral solution
49 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
50 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3

Search NIH Clinical Center for Dystonia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: dystonia

Genetic Tests for Dystonia

Genetic tests related to Dystonia:

# Genetic test Affiliating Genes
1 Dystonia 28

Anatomical Context for Dystonia

MalaCards organs/tissues related to Dystonia:

38
Brain, Testes, Globus Pallidus, Cortex, Cerebellum, Subthalamic Nucleus, Spinal Cord

Publications for Dystonia

Articles related to Dystonia:

(show top 50) (show all 2676)
# Title Authors Year
1
Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. ( 29326293 )
2018
2
Dopaminergic involvement in a drummer with focal dystonia: A case study. ( 29408773 )
2018
3
Deep brain stimulation for dystonia due to cerebral palsy: A review. ( 29396170 )
2018
4
Towards flexible and tailored botulinum neurotoxin dosing regimens for focal dystonia and spasticity - Insights from recent studies. ( 29407165 )
2018
5
Sertraline induced cervical dystonia in a patient of Obsessive Compulsive Disorder. ( 29447992 )
2018
6
Cervico-shoulder dystonia following lateral medullary infarction: a case report andA review of the literature. ( 29426369 )
2018
7
Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant. ( 29449182 )
2018
8
Postural control and the relation with cervical sensorimotor control in patients with idiopathic adult-onset cervical dystonia. ( 29340715 )
2018
9
Loss of inhibition in sensorimotor networks in focal hand dystonia. ( 29062685 )
2018
10
Capecitabine-Related Neurotoxicity Presenting as Oromandibular Dystonia. ( 29303645 )
2018
11
A 500A U/2A mL dilution of abobotulinumtoxinA vs. placebo: randomized study in cervical dystonia. ( 29343142 )
2018
12
Rationale for dopa-responsive CTNNB1/A9-catenin deficient dystonia. ( 29436745 )
2018
13
Quantitative Assessment of Hand Dysfunction in Patients with Early Parkinson's Disease and Focal Hand Dystonia. ( 29316781 )
2018
14
Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review. ( 29405267 )
2018
15
Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor. ( 29326295 )
2018
16
Abnormal cerebellar processing of the neck proprioceptive information drives dysfunctions in cervical dystonia. ( 29396401 )
2018
17
Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia. ( 29443021 )
2018
18
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40a8^years. ( 29429788 )
2018
19
Dystonia in childhood: Rising networks. ( 29447766 )
2018
20
Speech induced cervical dystonia: An unusual task specific dystonia. ( 29174183 )
2018
21
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH. ( 29405179 )
2018
22
H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome. ( 29076120 )
2018
23
The premotor syndrome of cervical dystonia: Disordered processing of salient environmental stimuli. ( 29205495 )
2018
24
INTEREST IN CD2, a global patient-centred study of long-term cervical dystonia treatment with botulinum toxin. ( 29270685 )
2018
25
Stuttering in Parkinson's disease after deep brain stimulation: A note on dystonia and low-frequency stimulation. ( 29396058 )
2018
26
Sonographic Guide for Botulinum Toxin Injections of the Neck Muscles in Cervical Dystonia. ( 29173657 )
2018
27
Diagnosis and treatment of pediatric onset isolated dystonia. ( 29396174 )
2018
28
Full recovery from drummer's dystonia with foot and arm symptoms after stereotactic ventro-oral thalamotomy: a case report. ( 29423776 )
2018
29
Multidisciplinary management of a partially edentulous patient with oromandibular dystonia: A clinical report. ( 29429838 )
2018
30
Basal ganglia mechanisms in action selection, plasticity, and dystonia. ( 29396175 )
2018
31
Modulation of the muscle activity during sleep in cervical dystonia. ( 28525628 )
2017
32
Evaluation of the Edrophonium Challenge Test for Cervical Dystonia. ( 28824069 )
2017
33
Alterations of resting-state fMRI measurements in individuals with cervical dystonia. ( 28504361 )
2017
34
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation. ( 28869676 )
2017
35
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. ( 28087438 )
2017
36
Persistent oromandibular dystonia and angioedema secondary to haloperidol. ( 28978587 )
2017
37
Management of Oromandibular Dystonia: A Case Report and Literature Update. ( 28706744 )
2017
38
A role for cerebellum in the hereditary dystonia DYT1. ( 28198698 )
2017
39
Bupropion-Induced Acute Dystonia with Dose Escalation and Use of Naranjo Nomogram. ( 28507829 )
2017
40
Rechargeable or Nonrechargeable Deep Brain Stimulation in Dystonia: A Cost Analysis. ( 28083888 )
2017
41
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features. ( 28500446 )
2017
42
Dystonia treatment: Patterns of medication use in an international cohort. ( 28077492 )
2017
43
TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation. ( 28431625 )
2017
44
Adaptation of feedforward movement control is abnormal in patients with cervical dystonia and tremor. ( 28943258 )
2017
45
Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation. ( 27667361 )
2017
46
Upper Limb Function, Kinematic Analysis, and Dystonia Assessment in Children With Spastic Diplegic Cerebral Palsy and Periventricular Leukomalacia. ( 28776460 )
2017
47
Sensory, Motor and Intrinsic Mechanisms of Thalamic Activity related to Organic and Psychogenic Dystonia. ( 28944096 )
2017
48
Neuropathic Pain as Potential Source of Feed-Induced Dystonia in Children with Severe Central Nervous System Disorders. ( 28902091 )
2017
49
KMT2B rare missense variants in generalized dystonia. ( 28520167 )
2017
50
Ten-year results of pallidal stimulation for cricopharyngeal dystonia with spasmodic dysphonia. ( 27927934 )
2017

Variations for Dystonia

ClinVar genetic disease variations for Dystonia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121917762 GRCh37 Chromosome 11, 2186957: 2186957
2 TH NM_199292.2(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Pathogenic/Likely pathogenic rs45471299 GRCh37 Chromosome 11, 2185569: 2185569
3 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh37 Chromosome 19, 30193873: 30193873
4 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic rs80358233 GRCh37 Chromosome 9, 132576341: 132576343
5 MYO5A NM_000259.3(MYO5A): c.4200C> G (p.Ser1400Arg) single nucleotide variant Pathogenic rs1114167290 GRCh37 Chromosome 15, 52632432: 52632432

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
10.09 GCH1 SPR

GO Terms for Dystonia

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

# Name GO ID Score Top Affiliating Genes
1 zinc II ion transport GO:0006829 9.37 SLC30A10 SLC39A14
2 regulation of nitric-oxide synthase activity GO:0050999 9.32 GCH1 SPR
3 zinc II ion transmembrane transport GO:0071577 9.26 SLC30A10 SLC39A14
4 nitric oxide biosynthetic process GO:0006809 9.16 GCH1 SPR
5 tetrahydrobiopterin biosynthetic process GO:0006729 8.96 GCH1 SPR
6 chaperone-mediated protein transport GO:0072321 8.62 TIMM8A TOR1A

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion transmembrane transporter activity GO:0005385 8.62 SLC30A10 SLC39A14

Sources for Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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