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MCID: DYS154
MIFTS: 64

Dystonia

Categories: Neuronal diseases, Genetic diseases, Rare diseases, Muscle diseases, Ear diseases, Fetal 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 76 29 6 43 44 15 40
Dystonic Disease 12 73
Dystonia Disorders 73
Dystonias 54

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:543
ICD10 33 G24 G24.9
NCIt 50 C34563
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Summaries for Dystonia

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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 3, torsion, x-linked and dystonia 12, and has symptoms including back pain, headache and muscle cramp. 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 Menthol and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and cerebellum, and related phenotypes are behavior/neurological and muscle

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

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

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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

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

(show top 50) (show all 493)
# Related Disease Score Top Affiliating Genes
1 dystonia 3, torsion, x-linked 35.3 ATP1A3 GCH1 TAF1 THAP1
2 dystonia 12 35.3 ATP1A3 GCH1 PRKRA SGCE THAP1 TOR1A
3 dystonia 1, torsion, autosomal dominant 35.2 GCH1 SGCE TAF1 TH TOR1A
4 cervical dystonia 35.1 GCH1 GNAL THAP1 TOR1A
5 oromandibular dystonia 35.1 GCH1 THAP1 TOR1A
6 dystonia 11, myoclonic 35.1 ATP1A3 DRD2 GCH1 SGCE TH THAP1
7 early-onset generalized dystonia 35.0 ANO3 GCH1 PRKRA THAP1 TOR1A
8 dystonia 24 35.0 ANO3 THAP1 TOR1A
9 dystonia, dopa-responsive 34.9 ATP1A3 GCH1 PRKRA SGCE SPR TAF1
10 spasmodic dystonia 34.8 GNAL THAP1 TOR1A
11 cranio-facial dystonia 34.8 GCH1 THAP1 TOR1A
12 segmental dystonia 34.8 GCH1 THAP1 TOR1A
13 multifocal dystonia 34.7 ATP1A3 PRKRA TOR1A
14 focal dystonia 34.6 ANO3 DRD2 GNAL SGCE TAF1 THAP1
15 hereditary dystonia 34.5 GCH1 TH TUBB4A
16 segawa syndrome, autosomal recessive 34.5 GCH1 TH
17 lymphedema, hereditary, ii 34.5 GCH1 THAP1 TOR1A
18 spasmodic dysphonia 34.1 THAP1 TOR1A TUBB4A
19 focal hand dystonia 33.8 THAP1 TOR1A
20 blepharospasm 33.6 GCH1 GNAL THAP1 TIMM8A TOR1A
21 hyperphenylalaninemia, bh4-deficient, b 32.9 GCH1 TH
22 hemidystonia 32.8 ATP1A3 GCH1 SGCE TAF1 THAP1 TOR1A
23 oculogyric crisis 32.4 ATP1A3 GCH1
24 movement disease 31.4 ATP1A3 DRD2 GCH1 SGCE TH TOR1A
25 torticollis 31.3 DRD2 TOR1A
26 hyperphenylalaninemia 31.2 GCH1 SPR TH
27 3-methylglutaconic aciduria, type iii 31.1 ATP1A3 C19orf12 TIMM8A
28 parkinson disease, late-onset 30.9 DRD2 GCH1 SPR TH TOR1A
29 tetrahydrobiopterin deficiency 30.7 GCH1 SPR TH
30 dystonia 16 12.4
31 dystonia 6, torsion 12.4
32 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 12.3
33 dystonia 4, torsion, autosomal dominant 12.3
34 dystonia, juvenile-onset 12.3
35 dystonia 2, torsion, autosomal recessive 12.3
36 leber optic atrophy and dystonia 12.3
37 dystonia 25 12.3
38 x-linked dystonia-parkinsonism/lubag 12.3
39 dystonia 23 12.3
40 adolescent-onset dystonia of mixed type 12.3
41 dystonia 27 12.2
42 hypermanganesemia with dystonia 1 12.2
43 parkinsonism-dystonia, infantile 12.2
44 dystonia 13, torsion, autosomal dominant 12.2
45 early-onset generalized limb-onset dystonia 12.2
46 dystonia 21 12.2
47 dystonia 9 12.2
48 torsion dystonia with onset in infancy 12.2
49 hypermanganesemia with dystonia 12.1
50 leukoencephalopathy with dystonia and motor neuropathy 12.1

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:


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

MGI Mouse Phenotypes related to Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 TOR1A ATP1A3 CSTB DRD2 GNAL GNB1
2 muscle MP:0005369 9.5 ATP1A3 CSTB DRD2 MYO5A PRKRA SGCE
3 nervous system MP:0003631 9.4 ATP1A3 CSTB DRD2 GCH1 GNB1 MYO5A
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 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Phase 4,Not Applicable 2216-51-5 16666
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
3
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
4
Levodopa Approved Phase 4,Phase 3,Phase 2 59-92-7 6047
5
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
6
Ziprasidone Approved Phase 4 146939-27-7 60854
7
Carbidopa Approved Phase 4,Phase 3,Phase 2 28860-95-9 34359 38101
8
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
9
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
10
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 3 525-66-6 4946
13
Ibuprofen Approved Phase 4 15687-27-1 3672
14
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
15
Amantadine Approved Phase 4,Phase 2 768-94-5 2130
16
Haloperidol Approved Phase 4 52-86-8 3559
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
18
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
19 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
21 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
24 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Anesthetics, General Phase 4,Phase 2,Phase 3,Not Applicable
29 Anesthetics, Intravenous Phase 4,Phase 2,Phase 3,Not Applicable
30 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
31 Dihydroxyphenylalanine Phase 4,Phase 3,Phase 2
32 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
35 Protective Agents Phase 4,Phase 3,Phase 2
36 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2,Not Applicable
37 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
38 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Phase 2
39 Antirheumatic Agents Phase 4,Phase 1,Phase 2
40 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
41 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
42 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Carbidopa, levodopa drug combination Phase 4,Phase 3
44 decanoic acid Phase 4
45 Haloperidol decanoate Phase 4
46 Quetiapine Fumarate Phase 4,Phase 2 111974-72-2
47 Dopamine agonists Phase 4,Phase 3,Phase 2
48 Adjuvants, Anesthesia Phase 4,Phase 2,Phase 3
49 Adjuvants, Immunologic Phase 4,Phase 3
50 Adrenergic Agents Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 346)
# Name Status NCT ID Phase Drugs
1 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
2 Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia Unknown status NCT00142259 Phase 4
3 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
4 Use of Interventional MRI for Implantation of Deep Brain Stimulator Electrodes Unknown status NCT00792532 Phase 4
5 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
6 A Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
7 Botox for Cervical Dystonia Following EMG Mapping Completed NCT00773253 Phase 4 Botulinum toxin A
8 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
9 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
10 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
11 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
12 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
13 Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
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 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
18 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 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 Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
23 Study of Arm and Putter Movement in Golfers With Golfer's Cramp Completed NCT02032758 Phase 4 Propranolol
24 Efficacy and Tolerability of Switching to Ziprasidone From Other Antipsychotics Completed NCT00458211 Phase 4 ziprasidone
25 An Efficacy and Safety Study of Risperidone Long-Acting Microspheres in Participants With Schizophrenia, Schizophreniform or Schizoaffective Disorders Completed NCT01855074 Phase 4 Risperidone
26 A Study to Evaluate Participants Satisfaction, Quality of Life and Effectiveness of Flexible-Dose of Paliperidone Extended Release (ER) in Participants With Schizophrenia, Previously Treated With Risperidone Completed NCT01010776 Phase 4 Paliperidone Extended Release (ER)
27 A Study of the Cataractogenic Potential of Seroquel and Risperdal in the Treatment of Participants With Schizophrenia or Schizoaffective Disorder Completed NCT00206102 Phase 4 quetiapine fumarate;risperidone
28 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4 Fentanyl;Ibuprofen
29 Paliperidone Extended Release in Schizophrenia Participants With Duration of Illness Less Than 10 Years Completed NCT01362439 Phase 4 Paliperidone ER
30 An Efficacy and Safety Study of Long-Term Risperidone Microspheres in Participants With Schizophrenia Completed NCT00269919 Phase 4 Risperidone Long-Acting Injectable (RLAI)
31 Intravenous Ketorolac and Metoclopramide for Pediatric Migraine in the Emergency Department Completed NCT01596166 Phase 4 Ketorolac Tromethamine;Metoclopramide
32 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Recruiting NCT02618889 Phase 4
33 Comparison of the Efficacy of Double Monopolar Versus Interleaving Stimulation Modes for Pallidal Deep Brain Stimulation Recruiting NCT01497639 Phase 4
34 An Open-Label Tolerability and Exploratory Efficacy Study of Zonisamide for Dyskinesias in Parkinson's Disease Recruiting NCT03034538 Phase 4 Zonegran;Zonegran
35 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Active, not recruiting NCT03098368 Phase 4 Rotigotine;Placebo
36 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm Active, not recruiting NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
37 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
38 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
39 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
40 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
41 Ketamine Versus Haloperidol for Severe Agitation Outside the Hospital Withdrawn NCT02103881 Phase 4 Ketamine;Haloperidol
42 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
43 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
44 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
45 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor Unknown status NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
46 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3 Botulinum type A toxin (Dysport®)
47 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3 zonegran;placebo
48 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Dysport®;Placebo
49 Deep Brain Stimulation in Treating Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
50 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3 Dysport®

Search NIH Clinical Center for Dystonia

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


Cochrane evidence based reviews: dystonia

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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:

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

Publications for Dystonia

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Articles related to Dystonia:

(show top 50) (show all 2815)
# Title Authors Year
1
Dopaminergic involvement in a drummer with focal dystonia: A case study. ( 29408773 )
2018
2
An Elderly Woman with Reversal of Clinical Presentation Mimicking Rapid-Onset Dystonia-Parkinsonism. ( 29971984 )
2018
3
Systematic review of botulinum toxin treatment for oromandibular dystonia. ( 29453996 )
2018
4
INTEREST IN CD2, a global patient-centred study of long-term cervical dystonia treatment with botulinum toxin. ( 29270685 )
2018
5
Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia. ( 29913530 )
2018
6
Capecitabine-Related Neurotoxicity Presenting as Oromandibular Dystonia. ( 29303645 )
2018
7
Sensory Trick in a Patient with Cervical Dystonia: Insights from Magnetoencephalography. ( 29565281 )
2018
8
Spread of dystonia in patients with idiopathic adult-onset laryngeal dystonia. ( 29935029 )
2018
9
H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome. ( 29076120 )
2018
10
Stereotactic Selective Thalamotomy for Focal Dystonia with Aid of Depth Microrecording. ( 29909211 )
2018
11
Basal ganglia mechanisms in action selection, plasticity, and dystonia. ( 29396175 )
2018
12
Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant. ( 29449182 )
2018
13
Aripiprazole induced neck dystonia and oculogyric crisis. ( 29453150 )
2018
14
Pedunculopontine Nucleus Cholinergic Deficiency in Cervical Dystonia. ( 29508906 )
2018
15
Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome. ( 29971201 )
2018
16
Speech induced cervical dystonia: An unusual task specific dystonia. ( 29174183 )
2018
17
The effects of a relaxation program featuring aquatic therapy and autogenic training among people with cervical dystonia (a pilot study). ( 29939827 )
2018
18
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH. ( 29405179 )
2018
19
A 500A U/2A mL dilution of abobotulinumtoxinA vs. placebo: randomized study in cervical dystonia. ( 29343142 )
2018
20
Resting-State Pallidal-Cortical Oscillatory Couplings in Patients With Predominant Phasic and Tonic Dystonia. ( 29904367 )
2018
21
Dysfunction in emotion processing underlies functional (psychogenic) dystonia. ( 29124784 )
2018
22
Abnormal cerebellar processing of the neck proprioceptive information drives dysfunctions in cervical dystonia. ( 29396401 )
2018
23
Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review. ( 29405267 )
2018
24
Oromandibular Dystonia-Related Temporomandibular Joint Osteoarthritis: A Case History Report. ( 29723311 )
2018
25
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40a8^years. ( 29429788 )
2018
26
Quantitative Assessment of Hand Dysfunction in Patients with Early Parkinson's Disease and Focal Hand Dystonia. ( 29316781 )
2018
27
Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients. ( 29860784 )
2018
28
Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia. ( 29443021 )
2018
29
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. ( 28778788 )
2018
30
Multilingual website and cyberconsultations for oromandibular dystonia. ( 29844890 )
2018
31
GABA<sub>A</sub> Receptor Availability Changes Underlie Symptoms in Isolated Cervical Dystonia. ( 29670567 )
2018
32
Electromyography analysis and botulinum toxin plan in a pianist with musician's dystonia: a case report. ( 29944922 )
2018
33
Deep brain stimulation for dystonia due to cerebral palsy: A review. ( 29396170 )
2018
34
The premotor syndrome of cervical dystonia: Disordered processing of salient environmental stimuli. ( 29205495 )
2018
35
Protocol for N-of-1 trials proof of concept for rehabilitation of childhood-onset dystonia: Study 1: Protocole des essais de validation A effectif unique pour la rAcadaptation de la dystonie dAcbutant dans l'enfance : A8tude 1. ( 29972044 )
2018
36
Effect of botulinum toxin A &amp;amp; task-specific training on upper limb function in post-stroke focal dystonia. ( 29808039 )
2018
37
Psychodiagnostics: Classification of the Yips Phenomenon based on Musician's Dystonia. ( 29933350 )
2018
38
Personalized botulinum toxin type A therapy for cervical dystonia based on kinematic guidance. ( 29557988 )
2018
39
Rationale for dopa-responsive CTNNB1/A9-catenin deficient dystonia. ( 29436745 )
2018
40
Comparison of dystonia between Parkinson's disease and atypical parkinsonism: The clinical usefulness of dystonia distribution and characteristics in the differential diagnosis of parkinsonism. ( 29196058 )
2018
41
Altered functional connectivity in blepharospasm/orofacial dystonia. ( 29568690 )
2018
42
Long-term quality of life in cervical dystonia after treatment with abobotulinum toxin A: a 2-year prospective study. ( 29731634 )
2018
43
Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. ( 29326293 )
2018
44
Diagnosis and treatment of pediatric onset isolated dystonia. ( 29396174 )
2018
45
High prevalence of olfactory dysfunction in cervical dystonia. ( 29724603 )
2018
46
Neuropsychological Difficulties Associated with Dopa Responsive Dystonia. ( 29899782 )
2018
47
Oromandibular dystonia screening questionnaire for differential diagnosis. ( 29717363 )
2018
48
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment. ( 29952836 )
2018
49
Postural control and the relation with cervical sensorimotor control in patients with idiopathic adult-onset cervical dystonia. ( 29340715 )
2018
50
Protocol for N-of-1 trials with replications across therapists for childhood-onset dystonia rehabilitation: Study 2: Protocole des essais A effectif unique avec rAcpActitions par diffAcrents ergothAcrapeutes pour la rAcadaptation de la dystonie dAcbutant dans l'enfance : A8tude 2. ( 29972046 )
2018
Sources

Variations for Dystonia

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ClinVar genetic disease variations for Dystonia:

6
(show top 50) (show all 548)
# Gene Variation Type Significance SNP ID Assembly Location
1 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic rs80358233 GRCh37 Chromosome 9, 132576341: 132576343
2 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic rs80358233 GRCh38 Chromosome 9, 129814062: 129814064
3 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
4 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297
5 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Likely pathogenic rs121917762 GRCh37 Chromosome 11, 2186957: 2186957
6 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Likely pathogenic rs121917762 GRCh38 Chromosome 11, 2165727: 2165727
7 TH NM_199292.2(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Likely pathogenic rs121917763 GRCh37 Chromosome 11, 2189126: 2189126
8 TH NM_199292.2(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Likely pathogenic rs121917763 GRCh38 Chromosome 11, 2167896: 2167896
9 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh37 Chromosome 19, 30193873: 30193873
10 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh38 Chromosome 19, 29702966: 29702966
11 SLC2A1 NM_006516.2(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh37 Chromosome 1, 43395461: 43395461
12 SLC2A1 NM_006516.2(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh38 Chromosome 1, 42929790: 42929790
13 SLC2A1 NM_006516.2(SLC2A1): c.972+7delC deletion Conflicting interpretations of pathogenicity rs531385270 GRCh37 Chromosome 1, 43394874: 43394874
14 SLC2A1 NM_006516.2(SLC2A1): c.972+7delC deletion Conflicting interpretations of pathogenicity rs531385270 GRCh38 Chromosome 1, 42929203: 42929203
15 SLC2A1 NM_006516.2(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 GRCh37 Chromosome 1, 43394958: 43394958
16 SLC2A1 NM_006516.2(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 GRCh38 Chromosome 1, 42929287: 42929287
17 SLC2A1 NM_006516.2(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 GRCh37 Chromosome 1, 43396500: 43396500
18 SLC2A1 NM_006516.2(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 GRCh38 Chromosome 1, 42930829: 42930829
19 SLC2A1 NM_006516.2(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Likely benign rs202060209 GRCh37 Chromosome 1, 43396718: 43396718
20 SLC2A1 NM_006516.2(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Likely benign rs202060209 GRCh38 Chromosome 1, 42931047: 42931047
21 SLC2A1 NM_006516.2(SLC2A1): c.-26G> C single nucleotide variant Benign/Likely benign rs375001117 GRCh37 Chromosome 1, 43424348: 43424348
22 SLC2A1 NM_006516.2(SLC2A1): c.-26G> C single nucleotide variant Benign/Likely benign rs375001117 GRCh38 Chromosome 1, 42958677: 42958677
23 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
24 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
25 MT-ND6 NC_012920.1: m.14597A> G single nucleotide variant Likely pathogenic rs797045055 GRCh37 Chromosome MT, 14597: 14597
26 MT-ND6 NC_012920.1: m.14597A> G single nucleotide variant Likely pathogenic rs797045055 GRCh38 Chromosome MT, 14597: 14597
27 SLC2A1 NM_006516.2(SLC2A1): c.1034C> T (p.Ala345Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769943554 GRCh38 Chromosome 1, 42928972: 42928972
28 SLC2A1 NM_006516.2(SLC2A1): c.1034C> T (p.Ala345Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769943554 GRCh37 Chromosome 1, 43394643: 43394643
29 TUBB4A NM_006087.3(TUBB4A): c.915G> A (p.Pro305=) single nucleotide variant Conflicting interpretations of pathogenicity rs149903666 GRCh38 Chromosome 19, 6495584: 6495584
30 TUBB4A NM_006087.3(TUBB4A): c.915G> A (p.Pro305=) single nucleotide variant Conflicting interpretations of pathogenicity rs149903666 GRCh37 Chromosome 19, 6495595: 6495595
31 SPR NM_003124.4(SPR): c.112G> A (p.Val38Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146099322 GRCh37 Chromosome 2, 73114673: 73114673
32 SPR NM_003124.4(SPR): c.112G> A (p.Val38Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146099322 GRCh38 Chromosome 2, 72887544: 72887544
33 SPR NM_003124.4(SPR): c.628C> T (p.Arg210Trp) single nucleotide variant Likely benign rs200845457 GRCh38 Chromosome 2, 72891379: 72891379
34 SPR NM_003124.4(SPR): c.628C> T (p.Arg210Trp) single nucleotide variant Likely benign rs200845457 GRCh37 Chromosome 2, 73118508: 73118508
35 CIZ1 NM_012127.2(CIZ1): c.2205C> T (p.Asp735=) single nucleotide variant Benign rs41276236 GRCh37 Chromosome 9, 130931421: 130931421
36 CIZ1 NM_012127.2(CIZ1): c.2205C> T (p.Asp735=) single nucleotide variant Benign rs41276236 GRCh38 Chromosome 9, 128169142: 128169142
37 CIZ1 NM_012127.2(CIZ1): c.1170G> T (p.Gln390His) single nucleotide variant Benign rs61740197 GRCh37 Chromosome 9, 130941316: 130941316
38 CIZ1 NM_012127.2(CIZ1): c.1170G> T (p.Gln390His) single nucleotide variant Benign rs61740197 GRCh38 Chromosome 9, 128179037: 128179037
39 TH NM_199292.2(TH): c.842A> T (p.Glu281Val) single nucleotide variant Uncertain significance rs878855309 GRCh37 Chromosome 11, 2188209: 2188209
40 TH NM_199292.2(TH): c.822C> T (p.Tyr274=) single nucleotide variant Likely benign rs878855308 GRCh38 Chromosome 11, 2166999: 2166999
41 TH NM_199292.2(TH): c.842A> T (p.Glu281Val) single nucleotide variant Uncertain significance rs878855309 GRCh38 Chromosome 11, 2166979: 2166979
42 TH NM_199292.2(TH): c.822C> T (p.Tyr274=) single nucleotide variant Likely benign rs878855308 GRCh37 Chromosome 11, 2188229: 2188229
43 DRD2 NM_000795.3(DRD2): c.1228G> A (p.Ala410Thr) single nucleotide variant Benign rs758683320 GRCh38 Chromosome 11, 113410831: 113410831
44 DRD2 NM_000795.3(DRD2): c.1228G> A (p.Ala410Thr) single nucleotide variant Benign rs758683320 GRCh37 Chromosome 11, 113281553: 113281553
45 DRD2 NM_000795.3(DRD2): c.979A> G (p.Lys327Glu) single nucleotide variant Benign rs71653614 GRCh38 Chromosome 11, 113412715: 113412715
46 DRD2 NM_000795.3(DRD2): c.979A> G (p.Lys327Glu) single nucleotide variant Benign rs71653614 GRCh37 Chromosome 11, 113283437: 113283437
47 DRD2 NM_000795.3(DRD2): c.423G> A (p.Leu141=) single nucleotide variant Benign rs1800499 GRCh38 Chromosome 11, 113416972: 113416972
48 DRD2 NM_000795.3(DRD2): c.423G> A (p.Leu141=) single nucleotide variant Benign rs1800499 GRCh37 Chromosome 11, 113287694: 113287694
49 TH NM_199292.2(TH): c.777G> A (p.Glu259=) single nucleotide variant Conflicting interpretations of pathogenicity rs11564716 GRCh38 Chromosome 11, 2167446: 2167446
50 TH NM_199292.2(TH): c.777G> A (p.Glu259=) single nucleotide variant Conflicting interpretations of pathogenicity rs11564716 GRCh37 Chromosome 11, 2188676: 2188676
Sources

Expression for Dystonia

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Search GEO for disease gene expression data for Dystonia.
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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 61
Show member pathways
 11.14 DRD2 GNB1 TH
2
Folate biosynthesis 37
Show member pathways
 10.26 GCH1 SPR TH
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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 9.46 DRD2 TH
2 nitric oxide biosynthetic process GO:0006809 9.43 GCH1 SPR
3 cofactor metabolic process GO:0051186 9.4 GCH1 SPR
4 dopamine biosynthetic process GO:0042416 9.37 GCH1 TH
5 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.32 GNAL GNB1
6 tetrahydrobiopterin biosynthetic process GO:0006729 9.26 GCH1 SPR
7 chaperone-mediated protein transport GO:0072321 9.16 TIMM8A TOR1A
8 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.96 DRD2 TOR1A
9 pigmentation GO:0043473 8.8 DRD2 MYO5A TH

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

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

Sources for Dystonia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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