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MCID: DYS154
MIFTS: 65

Dystonia

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Dystonia

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MalaCards integrated aliases for Dystonia:

Name: Dystonia 12 74 29 6 42 43 15 39 32
Dystonic Disease 12 71
Dystonia Disorders 71
Dystonias 53

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:543
NCIt 49 C34563
SNOMED-CT 67 15802004
ICD10 32 G24 G24.9
UMLS 71 C0013421 C0393593 C4020871
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Summaries for Dystonia

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MedlinePlus : 42 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, dopa-responsive and dystonia 1, torsion, autosomal dominant, 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 Methylphenidate Pathway, Pharmacodynamics. 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 growth/size/body region

NINDS : 53 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 : 74 Dystonia is a neurological movement disorder syndrome in which sustained or repetitive muscle... more...

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Related Diseases for Dystonia

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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 Rare Dystonia

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

(show top 50) (show all 1076)
# Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive 36.0 TOR1A THAP1 TH TAF1 SPR SGCE
2 dystonia 1, torsion, autosomal dominant 36.0 TUBB4A TOR1A THAP1 SGCE GNAL GCH1
3 dystonia 11, myoclonic 36.0 TOR1A THAP1 SGCE GNAL GCH1 DRD2
4 dystonia 12 35.9 TOR1A THAP1 TAF1 SGCE GNAL GCH1
5 dystonia 3, torsion, x-linked 35.8 TOR1A THAP1 TAF1 SGCE GCH1 ATP1A3
6 cervical dystonia 35.7 TOR1A THAP1 TH SPR SGCE GNAL
7 focal dystonia 35.7 TOR1A THAP1 TAF1 SGCE GNAL GCH1
8 oromandibular dystonia 35.6 TUBB4A TOR1A THAP1 SGCE GNAL GCH1
9 dystonia 25 35.5 TUBB4A TOR1A THAP1 GNAL ANO3
10 segmental dystonia 35.3 TUBB4A TOR1A THAP1 TAF1 SGCE GNAL
11 spasmodic dystonia 35.3 TUBB4A TOR1A THAP1 SGCE GNAL GCH1
12 dystonia 24 35.3 THAP1 GNAL ANO3
13 focal hand dystonia 35.3 TOR1A THAP1 SGCE GNAL GCH1 DRD2
14 multifocal dystonia 35.2 TOR1A THAP1 TAF1 SGCE GNAL GCH1
15 torsion dystonia 2 35.2 TUBB4A TOR1A THAP1 GNAL ANO3
16 dystonia 23 35.1 DYT23 ANO3
17 dystonia 27 35.1 GNAL ANO3
18 cranio-facial dystonia 35.0 TOR1A THAP1 SGCE GCH1
19 isolated dystonia 35.0 TUBB4A TOR1A THAP1 GNAL GCH1 ANO3
20 lymphatic malformation 5 34.9 TOR1A THAP1 SGCE GCH1
21 torsion dystonia 4 34.9 TUBB4A GNAL ANO3
22 hereditary dystonia 34.7 TH GCH1 ATP1A3
23 segawa syndrome, autosomal recessive 34.6 TH GCH1
24 sgce myoclonus-dystonia 34.5 SGCE DRD2
25 blepharospasm 34.3 TOR1A THAP1 TAF1 SGCE GNAL GCH1
26 spasmodic dysphonia 34.2 TUBB4A TOR1A THAP1
27 movement disease 34.1 TOR1A THAP1 TH TAF1 SGCE GNAL
28 neurodegeneration with brain iron accumulation 33.9 TOR1A THAP1 TH GCH1 C19orf12 ATP1A3
29 hemidystonia 33.7 TOR1A THAP1 TAF1 SPR SGCE GNAL
30 alternating hemiplegia of childhood 33.6 THAP1 SGCE GNAL GCH1 ATP1A3 ANO3
31 oculogyric crisis 33.3 SPR GCH1 DRD2 ATP1A3
32 aceruloplasminemia 33.1 THAP1 TH C19orf12 ATP1A3
33 hyperphenylalaninemia, bh4-deficient, b 33.0 TH GCH1
34 aromatic l-amino acid decarboxylase deficiency 32.6 SPR GCH1
35 myoclonus 32.4 SGCE DRD2 CSTB
36 torticollis 32.3 TOR1A DRD2
37 choreatic disease 32.2 SGCE GCH1 DRD2
38 lingual-facial-buccal dyskinesia 32.1 DRD2 CSTB
39 obsessive-compulsive disorder 31.8 TOR1A SGCE GCH1 DRD2
40 hyperphenylalaninemia 31.4 TH SPR GCH1
41 basal ganglia disease 31.4 TOR1A THAP1 GCH1
42 gilles de la tourette syndrome 31.2 TH SGCE DRD2
43 pathologic nystagmus 31.1 MYO5A GNB1 CASK
44 hereditary lymphedema ii 31.1 TOR1A THAP1 SGCE GCH1
45 tetrahydrobiopterin deficiency 31.0 TH SPR GCH1
46 phenylketonuria 30.9 TH GCH1 DRD2
47 delusional disorder 30.1 TH DRD2
48 dystonia 16 12.8
49 dystonia 6, torsion 12.7
50 dystonia 2, torsion, autosomal recessive 12.7

Graphical network of the top 20 diseases related to Dystonia:



Diseases related to Dystonia
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Symptoms & Phenotypes for Dystonia

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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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATP1A3 CASK CSTB DRD2 EIF2B5 GNAL
2 growth/size/body region MP:0005378 9.73 ATP1A3 CASK CSTB DRD2 EIF2B5 GNAL
3 nervous system MP:0003631 9.44 ATP1A3 CASK CSTB DRD2 EIF2B5 GCH1
Sources

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 183)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
2
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Amantadine Approved Phase 4 768-94-5 2130
4
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 26757 5195
5
Rasagiline Approved Phase 4 136236-51-6 3052776
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Levodopa Approved Phase 4 59-92-7 6047
8
Carbidopa Approved Phase 4 28860-95-9 34359
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Remifentanil Approved Phase 4 132875-61-7 60815
12
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14 incobotulinumtoxinA Phase 4
15 Sympathomimetics Phase 4
16 Autonomic Agents Phase 4
17 Protective Agents Phase 4
18 rimabotulinumtoxinB Phase 4
19 Antihypertensive Agents Phase 4
20 Adrenergic Antagonists Phase 4
21 Serotonin Uptake Inhibitors Phase 4
22 Psychotropic Drugs Phase 4
23 Serotonin Agents Phase 4
24 Dopamine Antagonists Phase 4
25 Tranquilizing Agents Phase 4
26 Antipsychotic Agents Phase 4
27 Serotonin Antagonists Phase 4
28 Antiviral Agents Phase 4
29 Antidepressive Agents Phase 4
30 Monoamine Oxidase Inhibitors Phase 4
31 Neuroprotective Agents Phase 4
32 Omega 3 Fatty Acid Phase 4
33 Dopamine Agents Phase 4
34 Adrenergic Agents Phase 4
35 Antiparkinson Agents Phase 4
36 Central Nervous System Depressants Phase 4
37 Carbidopa, levodopa drug combination Phase 4
38 Analgesics Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Anesthetics, General Phase 4
41 Anesthetics, Intravenous Phase 4
42 Immunologic Factors Phase 4
43 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
44 Adjuvants, Immunologic Phase 4
45 Dopamine agonists Phase 4
46 Adrenergic alpha-2 Receptor Agonists Phase 4
47 Hypnotics and Sedatives Phase 4
48 Adrenergic Agonists Phase 4
49 Narcotics Phase 4
50 Analgesics, Opioid Phase 4

Interventional clinical trials:

(show top 50) (show all 374)
# 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 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
21 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 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 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)
27 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
28 Adding Orally Disintegrating Selegiline (Zelapar) to Patients Taking Dopamine Agonists and Experiencing Complications Completed NCT00443872 Phase 4 orally disintegrating selegiline (Zelapar)
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 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
31 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
32 Liquid Risperidone in the Treatment of Acute Agitation in Psychiatrically Hospitalized Children Completed NCT00790075 Phase 4 risperidone
33 Effects of Anesthesia Drugs on Neuronal Activity in the Basal Ganglia and Thalamus During Deep Brain Stimulation Electrode Implantation Surgery Recruiting NCT03283150 Phase 4 Remifentanil;Propofol;Dexmedetomidine
34 Treatment in Advanced Parkinson's Disease: Continuous Intrajejunal Levodopa INfusion VErsus Deep Brain STimulation Recruiting NCT02480803 Phase 4 Continuous intrajejunal infusion of levodopa-carbidopa
35 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
36 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
37 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
38 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
39 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
40 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
41 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
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 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo

Search NIH Clinical Center for Dystonia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Amantadine
Amantadine Hydrochloride
Botulinum Toxin Type A
botulinum toxin type B
rimabotulinumtoxinB

Cochrane evidence based reviews: dystonia

Sources

Genetic Tests for Dystonia

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Genetic tests related to Dystonia:

# Genetic test Affiliating Genes
1 Dystonia 29
Sources

Anatomical Context for Dystonia

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MalaCards organs/tissues related to Dystonia:

40
Brain, Globus Pallidus, Cortex, Testes, Subthalamic Nucleus, Cerebellum, Heart
Sources

Publications for Dystonia

About this section

Articles related to Dystonia:

(show top 50) (show all 14004)
# Title Authors PMID Year
1
Neuromodulation: Deep Brain Stimulation for Treatment of Dystonia. 61 42
30898268 2019
2
Modern approaches for modelling dystonia and Huntington's disease in vitro and in vivo. 61 42
31090117 2019
3
Neuropathology of Dystonia. 61 42
30886764 2019
4
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. 61
31571321 2020
5
Cannabis Use in Children With Pantothenate Kinase-Associated Neurodegeneration. 61
31823681 2020
6
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations. 61
31908952 2020
7
Improved survival and overt "dystonic" symptoms in a torsinA hypofunction mouse model. 61
31891745 2020
8
Effective botulinum toxin injection guide for treatment of cervical dystonia. 61
31301235 2020
9
Cancer Rehabilitation:: Acute and Chronic Issues, Nerve Injury, Radiation Sequelae, Surgical and Chemo-Related, Part 2. 61
32035567 2020
10
Sex differences in movement disorders. 61
31900464 2020
11
Flanker Task Performance in Isolated Dystonia (Blepharospasm): A Focus on Sequential Effects. 61
32024200 2020
12
Thalamostriatal degeneration contributes to dystonia and cholinergic interneuron dysfunction in a mouse model of Huntington's disease. 61
32033588 2020
13
Models of hyperkinetic disorders in primates. 61
31857131 2020
14
Neuroimaging of Deep Brain Stimulation. 61
31761059 2020
15
Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature. 61
32013919 2020
16
Mechanical Thrombectomy in Pediatric Stroke: Report of Three New Cases. 61
31843352 2020
17
Predictive factors for outcome of pallidal deep brain stimulation in cervical dystonia. 61
32036265 2020
18
Subthalamic stimulation for cervical dystonia. 61
32034497 2020
19
Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice. 61
31618684 2020
20
Very-late-onset Friedreich's ataxia: diagnosis in a kindred with late-onset cerebellar ataxia. 61
31467149 2020
21
Impaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia. 61
31678405 2020
22
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. 61
31628766 2020
23
COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. 61
32037012 2020
24
Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration. 61
31505688 2020
25
[How to explore… a cervical dystonia]. 61
32030938 2020
26
Corrigendum to "Dystonia and dopamine: From phenomenology to pathophysiology" [Prog. Neurobiol. 182 (November) (2019), 101678, 18]. 61
31928793 2020
27
Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa. 61
32015175 2020
28
Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes. 61
32022442 2020
29
Surgical Tone Reduction in Cerebral Palsy. 61
31760996 2020
30
Sex may influence motor phenotype in a novel rodent model of cerebral palsy. 61
31841677 2020
31
The Use, Safety, and Efficacy of Olanzapine in a Level I Pediatric Trauma Center Emergency Department Over a 10-Year Period. 61
28697164 2020
32
Clinical Phenotypes in Corticobasal Syndrome with or without Amyloidosis Biomarkers. 61
32039846 2020
33
Frameless Deep Brain Stimulation Surgery: A Single-Center Experience and Retrospective Analysis of Placement Accuracy of 220 Electrodes in a Series of 110 Patients. 61
31935742 2020
34
Voice and swallowing dysfunction in X-linked dystonia parkinsonism. 61
30889292 2020
35
Long-Term Efficacy of Deep Brain Stimulation of Bilateral Globus Pallidus Internus in Primary Meige Syndrome. 61
31927550 2020
36
Repurposing of FDA-Approved Drugs for Treating Iatrogenic Botulism: A Paired 3D-QSAR/Docking Approach†. 61
31774239 2020
37
Quality of life outcomes after deep brain stimulation in dystonia: A systematic review. 61
31767450 2020
38
A pooled meta-analysis of GPi and STN deep brain stimulation outcomes for cervical dystonia. 61
31938862 2020
39
Sensorimotor Perceptive Rehabilitation Integrated (SPRInt) program: exercises with augmented movement feedback associated to botulinum neurotoxin in idiopathic cervical dystonia-an observational study. 61
31478151 2020
40
The Effect of Computed Tomography-Guided Botulinum Toxin Injection on Cervical Dystonia, Confirmed by a 9-Month Follow-Up Using Positron Emission Tomography/Computed Tomography. 61
31850946 2020
41
Assessment of hand functions in patients with idiopathic cervical dystonia. 61
31950896 2020
42
Implementation of New Technology in Patients with Chronic Deep Brain Stimulation: Switching from Non-Rechargeable Constant Voltage to Rechargeable Constant Current Stimulation. 61
31945765 2020
43
Principles of Electrophysiological Assessments for Movement Disorders. 61
31986867 2020
44
Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population. 61
31942761 2020
45
Mental health outcomes in children with acquired dystonia after basal ganglia stroke and associations with cognitive and motor outcomes. 61
31996083 2020
46
Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR. 61
31320745 2020
47
A Data-Driven Multi-scale Technique for fMRI Mapping of the Human Somatosensory Cortex. 61
31522362 2020
48
Normal temporal discrimination in musician's dystonia is linked to aberrant sensorimotor processing. 61
31930574 2020
49
Brain 123I-FP-CIT SPECT of a Holmes Tremor Due to Midbrain Pilocytic Astrocytoma. 61
31306206 2020
50
Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation. 61
31956970 2020
Sources

Variations for Dystonia

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ClinVar genetic disease variations for Dystonia:

6 (show top 50) (show all 342) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
2 CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter)SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297
3 TH NM_000360.4(TH):c.605G>A (p.Arg202His)SNV Pathogenic 12327 rs80338892 11:2189135-2189135 11:2167905-2167905
4 SPR NM_003124.5(SPR):c.448A>G (p.Arg150Gly)SNV Pathogenic 12941 rs104893665 2:73115586-73115586 2:72888457-72888457
5 SPR NM_003124.5(SPR):c.751A>T (p.Lys251Ter)SNV Pathogenic 12944 rs121917747 2:73118631-73118631 2:72891502-72891502
6 MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg)SNV Pathogenic 242881 rs1114167290 15:52632432-52632432 15:52340235-52340235
7 TH NM_000360.4(TH):c.364C>T (p.Arg122Ter)SNV Pathogenic 449110 rs771610752 11:2189844-2189844 11:2168614-2168614
8 GCH1 NM_000161.3(GCH1):c.126dup (p.Glu43fs)duplication Pathogenic 560371 rs1566687487 14:55369255-55369256 14:54902537-54902538
9 TH NM_000360.4(TH):c.1035_1045del (p.Gln346fs)deletion Pathogenic 639906 11:2187712-2187722 11:2166482-2166492
10 TH NM_199292.2(TH):c.-70G>ASNV Pathogenic 526213 rs1372180906 11:2193086-2193086 11:2171856-2171856
11 EIF2B5 NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)SNV Pathogenic 598970 rs113994063 3:183858305-183858305 3:184140517-184140517
12 TH NM_000360.4(TH):c.448C>T (p.Gln150Ter)SNV Pathogenic 691995 11:2189760-2189760 11:2168530-2168530
13 ANO3 NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys)SNV Pathogenic/Likely pathogenic 641954 11:26619992-26619992 11:26598445-26598445
14 TOR1A NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del)short repeat Pathogenic/Likely pathogenic 5180 rs80358233 9:132576341-132576343 9:129814062-129814064
15 CASK NM_003688.3(CASK):c.2506-2A>GSNV Pathogenic/Likely pathogenic 265316 rs398122845 X:41383289-41383289 X:41524036-41524036
16 C19orf12 NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg)SNV Pathogenic/Likely pathogenic 31157 rs515726205 19:30193873-30193873 19:29702966-29702966
17 TH NM_000360.4(TH):c.614T>C (p.Leu205Pro)SNV Pathogenic/Likely pathogenic 12325 rs121917763 11:2189126-2189126 11:2167896-2167896
18 TH NM_000360.4(TH):c.1141C>A (p.Gln381Lys)SNV Likely pathogenic 12324 rs121917762 11:2186957-2186957 11:2165727-2165727
19 PCDH12 NM_016580.3(PCDH12):c.2008G>T (p.Glu670Ter)SNV Likely pathogenic 619128 rs531630376 5:141335409-141335409 5:141955844-141955844
20 NPC1 NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)SNV Likely pathogenic 374166 rs113371321 18:21114441-21114441 18:23534477-23534477
21 NPC1 NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe)SNV Likely pathogenic 374167 rs1057518942 18:21124388-21124388 18:23544424-23544424
22 DRD2 NM_000795.4(DRD2):c.811-83G>TSNV drug response 375655 rs1076560 11:113283688-113283688 11:113412966-113412966
23 TH NM_000360.4(TH):c.692C>G (p.Thr231Ser)SNV Likely pathogenic 691996 11:2188668-2188668 11:2167438-2167438
24 TH NM_000360.4(TH):c.645-2A>GSNV Likely pathogenic 648965 11:2188717-2188717 11:2167487-2167487
25 SLC2A1 NM_006516.3(SLC2A1):c.313G>A (p.Val105Met)SNV Conflicting interpretations of pathogenicity 207189 rs577667739 1:43396500-43396500 1:42930829-42930829
26 SLC2A1 NM_006516.3(SLC2A1):c.274C>A (p.Arg92=)SNV Conflicting interpretations of pathogenicity 207181 rs202060209 1:43396718-43396718 1:42931047-42931047
27 TOR1A NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)SNV Conflicting interpretations of pathogenicity 18438 rs267607134 9:132581031-132581031 9:129818752-129818752
28 MT-ND6 NC_012920.1:m.14597A>GSNV Conflicting interpretations of pathogenicity 209173 rs797045055 MT:14597-14597 MT:14597-14597
29 SLC2A1 NM_006516.3(SLC2A1):c.1034C>T (p.Ala345Val)SNV Conflicting interpretations of pathogenicity 212202 rs769943554 1:43394643-43394643 1:42928972-42928972
30 TUBB4A NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)SNV Conflicting interpretations of pathogenicity 212502 rs149903666 19:6495595-6495595 19:6495584-6495584
31 SLC2A1 NM_006516.3(SLC2A1):c.680-10G>TSNV Conflicting interpretations of pathogenicity 159926 rs587784394 1:43395461-43395461 1:42929790-42929790
32 SLC2A1 NM_006516.3(SLC2A1):c.972+7deldeletion Conflicting interpretations of pathogenicity 198543 rs531385270 1:43394874-43394874 1:42929203-42929203
33 TH NM_000360.4(TH):c.1388C>T (p.Thr463Met)SNV Conflicting interpretations of pathogenicity 12326 rs45471299 11:2185569-2185569 11:2164339-2164339
34 SLC2A1 NM_006516.3(SLC2A1):c.777C>T (p.Ile259=)SNV Conflicting interpretations of pathogenicity 95417 rs78388808 1:43395354-43395354 1:42929683-42929683
35 MRE11 NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln)SNV Conflicting interpretations of pathogenicity 127974 rs139461096 11:94180441-94180441 11:94447275-94447275
36 SLC2A1 NM_006516.3(SLC2A1):c.18+12G>TSNV Conflicting interpretations of pathogenicity 139154 rs587781171 1:43424293-43424293 1:42958622-42958622
37 SLC2A1 NM_006516.3(SLC2A1):c.27G>A (p.Thr9=)SNV Conflicting interpretations of pathogenicity 139155 rs34025424 1:43408984-43408984 1:42943313-42943313
38 C19orf12 NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu)SNV Conflicting interpretations of pathogenicity 31158 rs146170087 19:30193654-30193654 19:29702747-29702747
39 SLC2A1 NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=)SNV Conflicting interpretations of pathogenicity 139168 rs146879902 1:43392754-43392754 1:42927083-42927083
40 SLC2A1 NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu)SNV Conflicting interpretations of pathogenicity 297381 rs76672402 1:43396501-43396501 1:42930830-42930830
41 SLC2A1 NM_006516.3(SLC2A1):c.132C>T (p.Tyr44=)SNV Uncertain significance 297382 rs886046341 1:43396860-43396860 1:42931189-42931189
42 SLC2A1 NM_006516.3(SLC2A1):c.-192G>CSNV Uncertain significance 297384 rs886046342 1:43424514-43424514 1:42958843-42958843
43 SLC2A1 NM_006516.3(SLC2A1):c.*587A>TSNV Uncertain significance 297370 rs748209315 1:43392125-43392125 1:42926454-42926454
44 SLC2A1 NM_006516.2(SLC2A1):c.-368A>CSNV Uncertain significance 297389 rs528964239 1:43424690-43424690 1:42959019-42959019
45 SLC2A1 NM_006516.2(SLC2A1):c.-384G>ASNV Uncertain significance 297390 rs886046345 1:43424706-43424706 1:42959035-42959035
46 SLC2A1 NM_006516.2(SLC2A1):c.-424C>GSNV Uncertain significance 297393 rs867977523 1:43424746-43424746 1:42959075-42959075
47 SLC2A1 NM_006516.3(SLC2A1):c.*1611T>CSNV Uncertain significance 297350 rs1057515457 1:43391101-43391101 1:42925430-42925430
48 SLC2A1 NM_006516.3(SLC2A1):c.*1337A>GSNV Uncertain significance 297354 rs113441673 1:43391375-43391375 1:42925704-42925704
49 SLC2A1 NM_006516.3(SLC2A1):c.*1147G>CSNV Uncertain significance 297361 rs886046332 1:43391565-43391565 1:42925894-42925894
50 TH NM_000360.4(TH):c.749A>T (p.Glu250Val)SNV Uncertain significance 242257 rs878855309 11:2188209-2188209 11:2166979-2166979
Sources

Expression for Dystonia

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Search GEO for disease gene expression data for Dystonia.
Sources

Pathways for Dystonia

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Pathways related to Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics 60
Show member pathways
 11.14 TH GNB1 DRD2
2
Methylphenidate Pathway, Pharmacodynamics 60
Show member pathways
 10.62 TH DRD2
3
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.46 TH DRD2
4
Folate biosynthesis 36
Show member pathways
 10.26 TH SPR GCH1
Sources

GO Terms for Dystonia

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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 TH DRD2
2 nitric oxide biosynthetic process GO:0006809 9.4 SPR GCH1
3 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.37 GNB1 GNAL
4 cofactor metabolic process GO:0051186 9.32 SPR GCH1
5 dopamine biosynthetic process GO:0042416 9.26 TH GCH1
6 tetrahydrobiopterin biosynthetic process GO:0006729 9.16 SPR GCH1
7 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.96 TOR1A DRD2
8 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 dopamine binding GO:0035240 8.62 TH DRD2
Sources

Sources for Dystonia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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