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 75 29 6 43 44 15 40 33
Dystonic Disease 12 72
Dystonia Disorders 72
Dystonias 54


External Ids:

Disease Ontology 12 DOID:543
NCIt 50 C34563
SNOMED-CT 68 15802004
ICD10 33 G24 G24.9
UMLS 72 C0013421 C0393593 C4020871

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 Olanzapine and Risperidone 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 : 75 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
Rare Dystonia

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

(show top 50) (show all 1071)
# Related Disease Score Top Affiliating Genes
1 dystonia 12 35.8 TUBB4A TOR1A THAP1 SGCE GCH1 ATP1A3
2 dystonia 11, myoclonic 35.8 TOR1A THAP1 TH SGCE GCH1 ATP1A3
3 dystonia, dopa-responsive 35.8 TOR1A THAP1 TH TAF1 SPR SGCE
4 dystonia 3, torsion, x-linked 35.7 THAP1 TAF1 GCH1 ATP1A3
5 dystonia 1, torsion, autosomal dominant 35.7 TOR1A TH TAF1 SGCE GCH1
6 cervical dystonia 35.5 TOR1A THAP1 GNAL GCH1
7 dystonia 24 35.4 TOR1A THAP1 ANO3
8 focal dystonia 35.4 TOR1A THAP1 TAF1 SGCE GNAL DRD2
9 oromandibular dystonia 35.3 TOR1A THAP1 GCH1
10 spasmodic dystonia 35.1 TOR1A THAP1 GNAL
11 segmental dystonia 35.1 TOR1A THAP1 GCH1
12 multifocal dystonia 34.9 TOR1A ATP1A3
13 hereditary dystonia 34.8 TUBB4A TH GCH1
14 segawa syndrome, autosomal recessive 34.7 TH GCH1
15 spasmodic dysphonia 34.4 TUBB4A TOR1A THAP1
16 blepharospasm 34.1 TOR1A THAP1 GNAL GCH1
17 movement disease 33.7 TOR1A TH SGCE GCH1 DRD2 ATP1A3
18 hemidystonia 33.5 TOR1A THAP1 TAF1 SGCE GCH1 ATP1A3
19 hyperphenylalaninemia, bh4-deficient, b 33.1 TH GCH1
20 oculogyric crisis 32.5 GCH1 ATP1A3
21 torticollis 32.3 TOR1A DRD2
22 parkinson disease, late-onset 31.7 TH SPR GCH1 DRD2
23 hyperphenylalaninemia 31.5 TH SPR GCH1
24 tetrahydrobiopterin deficiency 31.0 TH SPR GCH1
25 visual epilepsy 30.8 MYO5A GNB1 ATP1A3
26 delusional disorder 30.6 TH DRD2
27 pathologic nystagmus 30.2 MYO5A GNB1 CASK
28 dystonia 16 12.8
29 dystonia 6, torsion 12.7
30 dystonia 2, torsion, autosomal recessive 12.7
31 dystonia 25 12.7
32 dystonia 23 12.7
33 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 12.6
34 parkinsonism-dystonia, infantile, 1 12.6
35 dystonia 27 12.6
36 dystonia, juvenile-onset 12.6
37 leber optic atrophy and dystonia 12.6
38 dystonia, focal, task-specific 12.6
39 dystonia 4, torsion, autosomal dominant 12.6
40 dystonia 13, torsion, autosomal dominant 12.6
41 dystonia 9 12.6
42 x-linked dystonia-parkinsonism/lubag 12.6
43 dystonia 21 12.6
44 hypermanganesemia with dystonia 1 12.5
45 hypermanganesemia with dystonia 12.5
46 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 12.5
47 deafness, dystonia, and cerebral hypomyelination 12.5
48 leukoencephalopathy with dystonia and motor neuropathy 12.5
49 dystonia 26, myoclonic 12.5
50 hypermanganesemia with dystonia 2 12.5

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, chronic pain, opisthotonus, sciatica, vertigo/dizziness, sleeplessness, muscle cramp, spasm, spasmodic torticollis, spasm oropharyngeal, neck cramps

MGI Mouse Phenotypes related to Dystonia:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATP1A3 CASK CSTB DRD2 EIF2B5 GNAL
2 mortality/aging MP:0010768 9.73 ATP1A3 CASK DRD2 EIF2B5 GCH1 GNAL
3 nervous system MP:0003631 9.44 ATP1A3 CASK CSTB DRD2 EIF2B5 GCH1

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 179)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
Amantadine Approved Phase 4 768-94-5 2130
Rasagiline Approved Phase 4 136236-51-6 3052776
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 5195 26757
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Levodopa Approved Phase 4 59-92-7 6047
Carbidopa Approved Phase 4 28860-95-9 34359
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
11 incobotulinumtoxinA Phase 4
12 Sympathomimetics Phase 4
13 Cardiotonic Agents Phase 4
14 Protective Agents Phase 4
15 Autonomic Agents Phase 4
16 rimabotulinumtoxinB Phase 4
17 Antihypertensive Agents Phase 4
18 Adrenergic Antagonists Phase 4
19 Serotonin Uptake Inhibitors Phase 4
20 Serotonin Antagonists Phase 4
21 Serotonin Agents Phase 4
22 Dopamine Antagonists Phase 4
23 Antiviral Agents Phase 4
24 Neuroprotective Agents Phase 4
25 Monoamine Oxidase Inhibitors Phase 4
26 Omega 3 Fatty Acid Phase 4
27 Dopamine Agents Phase 4
28 Antiparkinson Agents Phase 4
29 Carbidopa, levodopa drug combination Phase 4
30 Immunologic Factors Phase 4
31 Adjuvants, Immunologic Phase 4
32 Dopamine agonists Phase 4
33 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
34 abobotulinumtoxinA Phase 4
35 Cholinergic Agents Phase 4
36 Neuromuscular Agents Phase 4
37 Acetylcholine Release Inhibitors Phase 4
38 Botulinum Toxins Phase 4
39 Botulinum Toxins, Type A Phase 4
40 Sodium Channel Blockers Phase 4
41 Diuretics, Potassium Sparing Phase 4
42 Anesthetics, Local Phase 4
43 Anesthetics Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 23925 27284
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
Promethazine Approved, Investigational Phase 3 60-87-7 4927
Diphenhydramine Approved, Investigational Phase 3 58-73-1, 147-24-0 3100
Deferiprone Approved Phase 3 30652-11-0 2972
Tetrabenazine Approved, Investigational Phase 3 58-46-8 6018

Interventional clinical trials:

(show top 50) (show all 362)
# Name Status NCT ID Phase Drugs
1 Randomisierte, Doppelblinde Langzeitstudie Zur Klinischen Wirksamkeit Der Bilateralen Globus Pallidus Internus-Stimulation Bei Idiopathischer Generalisierter Oder Segmentaler Dystonie Unknown status NCT00142259 Phase 4
2 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
3 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
4 A Study of the Utility of Botulinum Toxin Type A for Pain in Advanced Parkinson's Disease Double Blind Placebo Control Crossover Pilot Study Unknown status NCT02472210 Phase 4 Botulinum Toxin
5 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
6 Phase III Study of Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
7 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
8 Comparison of Cognitive Functions of Schizophrenic Patients Treated With Sertindole Versus Risperidone Unknown status NCT00480844 Phase 4 Sertindole;Risperidone
9 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
10 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
11 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
12 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
13 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
14 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
15 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
16 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)
17 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
18 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
19 A Randomized Controlled Trial Study of Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4 Risperidone and Olanzapine
20 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
21 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
22 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
23 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
24 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
25 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon: A Prospective Randomized Clinical Trial Injury to Reduce Sympathetic Storm Phenomenon: A Prospective Randomized Clinical Trial Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
26 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
27 A Randomized Controlled Trial on Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy Completed NCT00432055 Phase 4 Botulinum toxin type A (Botox);placebo (saline)
28 Effects of Rasagiline on Sleep Disturbances in PD: A Single Center, Randomized, Double-blind, Placebo run-in, Polysomnographic Clinical Phase IV Trial Completed NCT01442610 Phase 4 Rasagiline;Placebo
29 A Double-Blind, Randomised, Parallel-Group Comparison of Ethyl-Eicosapentaenoic Acid (Ethyl-EPA) Versus Placebo as Add-on Medication in Patients With Established Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
30 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm: a Randomized, Triple-blind, Placebo-controlled, Cross-over Clinical Trial Completed NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
31 Adding Orally Disintegrating Selegiline (Zelapar) to Patients Taking Dopamine Agonists and Experiencing Complications Completed NCT00443872 Phase 4 orally disintegrating selegiline (Zelapar)
32 Liquid Risperidone in the Treatment of Acute Agitation in Psychiatrically Hospitalized Children Completed NCT00790075 Phase 4 risperidone
33 Treatment in Advanced Parkinson's Disease: Continuous Intrajejunal Levodopa INfusion VErsus Deep Brain STimulation Recruiting NCT02480803 Phase 4 Continuous intrajejunal infusion of levodopa-carbidopa
34 Botulinum Toxin Pyloroplasty to Reduce Postoperative Nausea and Vomiting After Sleeve Gastrectomy Enrolling by invitation NCT03701919 Phase 4 Botulinum toxin pyloroplasty;Normal saline pyloric injection
35 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
36 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
37 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
38 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
39 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
40 Comparison of Efficacy of 250 Units Versus 500 Units of Botulinum Toxin in the Treatment of Refractory Vaginismus Unknown status NCT00638066 Phase 3 botulinum toxin;botulinum toxin A
41 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor by a Multi-center, Randomized, Double-Blind, Parallel-group, Placebo-controlled Study Unknown status NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
42 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
43 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
44 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
45 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
46 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
47 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
48 Phase II/III Study of Deep Brain Stimulation in Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
49 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
50 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 RU®) to Placebo, and Assessing the Short and Long Term Efficacy and Safety of Dysport RU® Following Repeated Treatments 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 72 / NDF-RT 51 :

Amantadine Hydrochloride
Botulinum Toxin Type A
botulinum toxin type B

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:

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

Publications for Dystonia

Articles related to Dystonia:

(show top 50) (show all 13714)
# Title Authors PMID Year
Modern approaches for modelling dystonia and Huntington's disease in vitro and in vivo. 38 17
31090117 2019
Neuromodulation: Deep Brain Stimulation for Treatment of Dystonia. 38 17
30898268 2019
Neuropathology of Dystonia. 38 17
30886764 2019
The neurobiological basis for novel experimental therapeutics in dystonia. 38
31279827 2019
Editorial for neurobiology of disease special issue on dystonia progress in the neurobiology of dystonia. 38
31129086 2019
Adverse events associated with deep brain stimulation in patients with childhood-onset dystonia. 38
31031208 2019
Posterior subthalamic area deep brain stimulation for treatment of tremor and dystonia in Wilson's disease. 38
31138489 2019
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. 38
30897263 2019
Hyperkinetic movement disorders in congenital disorders of glycosylation. 38
31132195 2019
Comorbidity and retirement in cervical dystonia. 38
31152297 2019
Meta-Regression Analysis of the Long-Term Effects of Pallidal and Subthalamic Deep Brain Stimulation for the Treatment of Isolated Dystonia. 38
31146039 2019
Expression of metabotropic glutamate 5 receptors in the striatum and cortex and effects of modulators on the severity of dystonia in the phenotypic dtsz model. 38
31283933 2019
Malignant Glioma Developed on a Patient Under Deep Brain Stimulation: Pitfalls in Management. 38
31158542 2019
Dystonia genes and their biological pathways. 38
31112762 2019
New approaches to discovering drugs that treat dystonia. 38
31159587 2019
Central nervous system abnormalities in spinal and bulbar muscular atrophy (Kennedy's disease). 38
31351215 2019
Detection of bacterial DNA on neurostimulation systems in patients without overt infection. 38
31302380 2019
Pallidothalamic Tractotomy (Forel's Field H1-tomy) for Dystonia: Preliminary Results. 38
31207377 2019
Visual compensation in cervical dystonia. 38
31230587 2019
Pure hypotonia in a four-year-old patient: An atypical presentation of Dopa-responsive dystonia. 38
31279255 2019
Intermuscular coherence as biomarker for pallidal deep brain stimulation efficacy in dystonia. 38
31207566 2019
Letter to the Editor. Pallidothalamic pathway stimulation in DBS for dystonia. 38
31374548 2019
Dystonia as complication of thalamic neurosurgery. 38
31434632 2019
Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene. 38
31386307 2019
Expansion of the clinical spectrum associated with AARS2-related disorders. 38
31099476 2019
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12. 38
31190316 2019
Cerebellar Syndrome Associated with Thyroid Disorders. 38
31388971 2019
X-Linked Dystonia-Parkinsonism: recent advances. 38
31116117 2019
Imaging gradual neurodegeneration in a basal ganglia model disease. 38
31376168 2019
Phosphodiesterase 10A IgG: A novel biomarker of paraneoplastic neurologic autoimmunity. 38
31315972 2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly. 38
31420595 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. 38
31165786 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia. 38
31388109 2019
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. 38
31257402 2019
Treatment of cervical dystonia with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice. 38
31049731 2019
The Dystonias. 38
31356290 2019
Adverse Event Profiles of High Dose Botulinum Toxin Injections for Spasticity. 38
31408270 2019
Psychogenic (Functional) Movement Disorders. 38
31356296 2019
[Deep brain stimulation for movement disorders]. 38
31386315 2019
Roles of the M4 acetylcholine receptor in the basal ganglia and the treatment of movement disorders. 38
31211471 2019
Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging. 38
30927559 2019
Two Chinese siblings with two novel KCTD7 mutations have dystonia or seizures and epileptic discharge on electroencephalograms. 38
31247399 2019
Pharmacological management of abnormal tone and movement in cerebral palsy. 38
30948360 2019
Missense mutations in DYT-TOR1A dystonia. 38
31321303 2019
Dystonia and dopamine: From phenomenology to pathophysiology. 38
31404592 2019
Experiences of living with dystonia. 38
31370703 2019
[Zonisamide treatment in myoclonus-dystonia]. 38
31423828 2019
Dysregulation of mechanosensory circuits coordinating the actions of antagonist motor pools following peripheral nerve injury and muscle reinnervation. 38
31039333 2019
Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol. 38
31034808 2019
A multicenter, open-label, controlled trial on acceptance, convenience, and complications of rechargeable internal pulse generators for deep brain stimulation: the Multi Recharge Trial. 38
31419794 2019

Variations for Dystonia

ClinVar genetic disease variations for Dystonia:

6 (show top 50) (show all 397)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TH NM_199292.3(TH): c.457C> T (p.Arg153Ter) single nucleotide variant Pathogenic rs771610752 11:2189844-2189844 11:2168614-2168614
2 TH NM_199292.2(TH): c.-70G> A single nucleotide variant Pathogenic rs1372180906 11:2193086-2193086 11:2171856-2171856
3 GCH1 NM_000161.3(GCH1): c.126dup (p.Glu43fs) duplication Pathogenic 14:55369256-55369256 14:54902537-54902538
4 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 21:45194178-45194178 21:43774297-43774297
5 TH NM_199292.3(TH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs80338892 11:2189135-2189135 11:2167905-2167905
6 SPR NM_003124.5(SPR): c.448A> G (p.Arg150Gly) single nucleotide variant Pathogenic rs104893665 2:73115586-73115586 2:72888457-72888457
7 SPR NM_003124.5(SPR): c.751A> T (p.Lys251Ter) single nucleotide variant Pathogenic rs121917747 2:73118631-73118631 2:72891502-72891502
8 C19orf12 NM_001256047.1(C19orf12): c.172G> A (p.Gly58Arg) single nucleotide variant Pathogenic rs515726205 19:30193873-30193873 19:29702966-29702966
9 GNB1 NM_002074.5(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 1:1737942-1737942 1:1806503-1806503
10 MYO5A NM_000259.3(MYO5A): c.4200C> G (p.Ser1400Arg) single nucleotide variant Pathogenic rs1114167290 15:52632432-52632432 15:52340235-52340235
11 TH NM_199292.3(TH): c.1128_1138del (p.Gln377fs) deletion Pathogenic 11:2187712-2187722 11:2166486-2166496
12 EIF2B5 NM_003907.3(EIF2B5): c.943C> T (p.Arg315Cys) single nucleotide variant Pathogenic 3:183858305-183858305 3:184140517-184140517
13 CASK NM_003688.3(CASK): c.2506-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs398122845 X:41383289-41383289 X:41524036-41524036
14 TH NM_199292.3(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121917763 11:2189126-2189126 11:2167896-2167896
15 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) short repeat Pathogenic/Likely pathogenic rs80358233 9:132576341-132576343 9:129814062-129814064
16 TH NM_199292.3(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Likely pathogenic rs121917762 11:2186957-2186957 11:2165727-2165727
17 DRD2 NM_000795.4(DRD2): c.811-83G> T single nucleotide variant drug response rs1076560 11:113283688-113283688 11:113412966-113412966
18 MT-ND6 NC_012920.1: m.14597A> G single nucleotide variant Likely pathogenic rs797045055 MT:14597-14597 MT:14597-14597
19 NPC1 NM_000271.5(NPC1): c.3560C> G (p.Ala1187Gly) single nucleotide variant Likely pathogenic rs113371321 18:21114441-21114441 18:23534477-23534477
20 NPC1 NM_000271.5(NPC1): c.2050C> T (p.Leu684Phe) single nucleotide variant Likely pathogenic rs1057518942 18:21124388-21124388 18:23544424-23544424
21 TH NM_199292.3(TH): c.738-2A> G single nucleotide variant Likely pathogenic 11:2188717-2188717 11:2167487-2167487
22 ANO3 NM_001313726.1(ANO3): c.1711G> A (p.Glu571Lys) single nucleotide variant Likely pathogenic 11:26619992-26619992 11:26598445-26598445
23 PCDH12 NM_016580.3(PCDH12): c.2008G> T (p.Glu670Ter) single nucleotide variant Likely pathogenic 5:141335409-141335409 5:141955844-141955844
24 SLC2A1 NM_006516.3(SLC2A1): c.1034C> T (p.Ala345Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769943554 1:43394643-43394643 1:42928972-42928972
25 TUBB4A NM_001289123.1(TUBB4A): c.1068G> A (p.Pro356=) single nucleotide variant Conflicting interpretations of pathogenicity rs149903666 19:6495595-6495595 19:6495584-6495584
26 SPR NM_003124.5(SPR): c.628C> T (p.Arg210Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200845457 2:73118508-73118508 2:72891379-72891379
27 MRE11 NM_005591.3(MRE11): c.1727G> A (p.Arg576Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139461096 11:94180441-94180441 11:94447275-94447275
28 SLC2A1 NM_006516.3(SLC2A1): c.18+12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587781171 1:43424293-43424293 1:42958622-42958622
29 SLC2A1 NM_006516.3(SLC2A1): c.1437C> T (p.Pro479=) single nucleotide variant Conflicting interpretations of pathogenicity rs146879902 1:43392754-43392754 1:42927083-42927083
30 SLC2A1 NM_006516.3(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 1:43395461-43395461 1:42929790-42929790
31 SLC2A1 NM_006516.3(SLC2A1): c.972+7del deletion Conflicting interpretations of pathogenicity rs531385270 1:43394874-43394874 1:42929203-42929203
32 TH NM_199292.3(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45471299 11:2185569-2185569 11:2164339-2164339
33 SLC2A1 NM_006516.3(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 1:43395354-43395354 1:42929683-42929683
34 C19orf12 NM_001256047.1(C19orf12): c.391A> G (p.Lys131Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146170087 19:30193654-30193654 19:29702747-29702747
35 TOR1A NM_000113.3(TOR1A): c.613T> A (p.Phe205Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs267607134 9:132581031-132581031 9:129818752-129818752
36 SLC2A1 NM_006516.3(SLC2A1): c.312C> G (p.Phe104Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs76672402 1:43396501-43396501 1:42930830-42930830
37 SLC2A1 NM_006516.3(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 1:43396500-43396500 1:42930829-42930829
38 SLC2A1 NM_006516.3(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Conflicting interpretations of pathogenicity rs202060209 1:43396718-43396718 1:42931047-42931047
39 TH NM_199292.3(TH): c.16G> A (p.Ala6Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs74555599 11:2193001-2193001 11:2171771-2171771
40 TH NM_199292.3(TH): c.777G> A (p.Glu259=) single nucleotide variant Conflicting interpretations of pathogenicity rs11564716 11:2188676-2188676 11:2167446-2167446
41 DRD2 NM_000795.4(DRD2): c.928C> T (p.Pro310Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1800496 11:113283488-113283488 11:113412766-113412766
42 SPR NM_003124.5(SPR): c.369C> T (p.Tyr123=) single nucleotide variant Conflicting interpretations of pathogenicity rs146349901 2:73115507-73115507 2:72888378-72888378
43 TH NM_199292.3(TH): c.1263C> G (p.Ala421=) single nucleotide variant Conflicting interpretations of pathogenicity rs199839852 11:2186928-2186928 11:2165698-2165698
44 TH NM_199292.3(TH): c.456G> A (p.Pro152=) single nucleotide variant Conflicting interpretations of pathogenicity rs370429316 11:2189845-2189845 11:2168615-2168615
45 TH NM_199292.3(TH): c.345G> A (p.Leu115=) single nucleotide variant Conflicting interpretations of pathogenicity rs758016812 11:2190940-2190940 11:2169710-2169710
46 TH NM_199292.3(TH): c.990C> T (p.Phe330=) single nucleotide variant Conflicting interpretations of pathogenicity rs76719766 11:2187943-2187943 11:2166713-2166713
47 TH NM_199292.3(TH): c.1461C> T (p.Ser487=) single nucleotide variant Conflicting interpretations of pathogenicity rs45538536 11:2185589-2185589 11:2164359-2164359
48 TH NM_199292.3(TH): c.406-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs538345855 11:2189904-2189904 11:2168674-2168674
49 THAP1 NM_018105.3(THAP1): c.*245T> C single nucleotide variant Uncertain significance rs886062947 8:42692860-42692860 8:42837717-42837717
50 THAP1 NM_018105.3(THAP1): c.*119del deletion Uncertain significance rs886062948 8:42692986-42692986 8:42837843-42837843

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
Show member pathways
11.14 TH GNB1 DRD2
Show member pathways
10.26 TH SPR GCH1

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 9.4 TH DRD2
2 nitric oxide biosynthetic process GO:0006809 9.37 SPR GCH1
3 dopamine biosynthetic process GO:0042416 9.32 TH GCH1
4 cofactor metabolic process GO:0051186 9.26 SPR GCH1
5 tetrahydrobiopterin biosynthetic process GO:0006729 9.16 SPR GCH1
6 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.96 TOR1A DRD2
7 pigmentation GO:0043473 8.8 TH MYO5A DRD2

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 TUBB4A GNB1 GNAL GCH1
2 translation initiation factor binding GO:0031369 9.16 GCH1 EIF2B5
3 dopamine binding GO:0035240 8.62 TH DRD2

Sources for Dystonia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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