MCID: DYS154
MIFTS: 64

Dystonia

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

Aliases & Classifications for Dystonia

MalaCards integrated aliases for Dystonia:

Name: Dystonia 12 74 29 6 42 44 15 39 32
Dystonic Disease 12 71
Dystonia Disorders 71
Dystonias 53

Classifications:



External Ids:

Disease Ontology 12 DOID:543
MeSH 44 D004421
NCIt 50 C34563
SNOMED-CT 67 15802004 250068003
ICD10 32 G24 G24.9
UMLS 71 C0013421 C0393593 C4020871

Summaries for Dystonia

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 12 and dystonia, dopa-responsive, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Dystonia is TH (Tyrosine Hydroxylase), and among its related pathways/superpathways is Folate biosynthesis. The drugs Levodopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus, cortex and subthalamic nucleus, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.

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 hyperkinetic movement disorder syndrome in which sustained or repetitive... more...

Related Diseases for Dystonia

Diseases in the Dystonia family:

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

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

(show top 50) (show all 1118)
# Related Disease Score Top Affiliating Genes
1 dystonia 12 33.9 TOR1A PANK2 KMT2B GCH1 ANO3
2 dystonia, dopa-responsive 33.9 TOR1A TH SPR GCH1
3 dystonia 11, myoclonic 33.8 TOR1A GCH1 ANO3
4 cervical dystonia 33.7 TOR1A TH SPR GCH1 ANO3
5 dystonia 1, torsion, autosomal dominant 33.7 TOR1A ANO3
6 dystonia 3, torsion, x-linked 33.5 TOR1A GCH1
7 focal dystonia 33.5 TOR1A PANK2 GCH1 ANO3
8 oromandibular dystonia 33.4 TOR1A PANK2 GCH1 C19orf12 ANO3
9 segawa syndrome, autosomal recessive 33.3 TH GCH1
10 dystonia 25 33.1 TOR1A ANO3
11 spastic paraplegia 35, autosomal recessive 33.1 WDR45 PANK2 C19orf12
12 spasmodic dystonia 33.1 TOR1A GCH1 ANO3
13 focal hand dystonia 33.0 TOR1A PANK2 ANO3
14 segmental dystonia 33.0 TOR1A GCH1 ANO3
15 movement disease 33.0 WDR45 TOR1A TH SPR PANK2 GCH1
16 multifocal dystonia 32.9 TOR1A SPR GCH1 ANO3
17 torsion dystonia 2 32.9 TOR1A ANO3
18 blepharospasm 32.8 TOR1A PANK2 GCH1 ANO3
19 hereditary dystonia 32.8 TH GCH1 ANO3
20 isolated dystonia 32.8 TOR1A GCH1 ANO3
21 neurodegeneration with brain iron accumulation 32.7 WDR45 TOR1A PANK2 C19orf12
22 neurodegeneration with brain iron accumulation 1 32.7 WDR45 TOR1A PANK2 C19orf12
23 torsion dystonia 4 32.6 TOR1A ANO3
24 neurodegeneration with brain iron accumulation 5 32.6 WDR45 PANK2 C19orf12
25 neurodegeneration with brain iron accumulation 3 32.5 WDR45 PANK2 C19orf12
26 hemidystonia 32.4 TOR1A SPR GCH1 ANO3
27 neurodegeneration with brain iron accumulation 6 32.4 WDR45 PANK2 C19orf12
28 aromatic l-amino acid decarboxylase deficiency 32.4 TH SPR GCH1
29 neurodegeneration with brain iron accumulation 4 32.3 WDR45 PANK2 C19orf12
30 hyperphenylalaninemia, bh4-deficient, a 32.2 SPR GCH1
31 hyperphenylalaninemia, bh4-deficient, b 32.1 TH GCH1
32 kufor-rakeb syndrome 32.1 WDR45 PANK2 C19orf12
33 oculogyric crisis 32.1 SPR GCH1
34 myoclonus 32.0 KMT2B CSTB AFG3L2
35 aceruloplasminemia 31.9 WDR45 PANK2 CEP104 C19orf12 AFG3L2
36 neurodegeneration with brain iron accumulation 2b 31.9 PANK2 C19orf12
37 choreatic disease 31.6 TOR1A TH RHOBTB2 PANK2 GCH1 CSTB
38 alacrima, achalasia, and mental retardation syndrome 31.4 WDR45 SPR GNB1 GJC2 GCH1 C19orf12
39 hyperphenylalaninemia 31.1 TH SPR GCH1
40 neurodegeneration with brain iron accumulation 2a 31.1 WDR45 PANK2 C19orf12
41 neuroaxonal dystrophy 31.0 WDR45 PANK2 C19orf12
42 early-onset parkinson's disease 31.0 TH GCH1 C19orf12
43 lingual-facial-buccal dyskinesia 30.9 WDR73 PANK2 CSTB
44 seizure disorder 30.9 WDR73 WDR45 MYO5A GNB1
45 alcohol-related neurodevelopmental disorder 30.7 WDR45 C19orf12
46 tetrahydrobiopterin deficiency 30.6 TH SPR GCH1
47 acrocephalopolysyndactyly type iii 30.6 WDR45 PANK2 C19orf12
48 sleep disorder 30.5 TH GCH1 ATP4A
49 early myoclonic encephalopathy 30.4 TH CSTB AFG3L2
50 hereditary lymphedema ii 30.3 TOR1A GJC2

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

MGI Mouse Phenotypes related to Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 AFG3L2 CSTB EIF2B5 GCH1 GJC2 GNB1
2 growth/size/body region MP:0005378 9.97 AFG3L2 ATP4A CSTB EIF2B5 GCH1 GNB1
3 mortality/aging MP:0010768 9.77 AFG3L2 ATP4A EIF2B5 GCH1 GJC2 GNB1
4 nervous system MP:0003631 9.44 AFG3L2 CSTB EIF2B5 GCH1 GJC2 GNB1

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 4 59-92-7 6047
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
4
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
5
Amantadine Approved Phase 4 768-94-5 2130
6
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
7 Carbidopa, levodopa drug combination Phase 4
8 Antiparkinson Agents Phase 4
9 Neurotransmitter Agents Phase 4
10 Anti-Infective Agents Phase 4
11 rimabotulinumtoxinB Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Psychotropic Drugs Phase 4
14 Analgesics Phase 4
15 Dopamine Agents Phase 4
16 Dopamine Antagonists Phase 4
17 Gastrointestinal Agents Phase 4
18 Antipsychotic Agents Phase 4
19 Serotonin Uptake Inhibitors Phase 4
20 Antiemetics Phase 4
21 Antiviral Agents Phase 4
22 Cholinergic Agents Phase 4
23 abobotulinumtoxinA Phase 4
24 Botulinum Toxins, Type A Phase 4
25 Botulinum Toxins Phase 4
26
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
27
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
28 Hormones Phase 3
29 Anticonvulsants Phase 3
30 Calcium, Dietary Phase 3
31 calcium channel blockers Phase 3
32 Pharmaceutical Solutions Phase 3
33
Calcium Nutraceutical Phase 3 7440-70-2 271
34
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
35
Trihexyphenidyl Approved Phase 2 144-11-6, 58947-95-8 5572
36
Sodium oxybate Approved Phase 2 502-85-2 5360545
37
Amlodipine Approved Phase 2 88150-42-9 2162
38
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
39
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
40
Promethazine Approved, Investigational Phase 2 60-87-7 4927
41
Levetiracetam Approved Phase 2 102767-28-2 441341
42 Hallucinogens Phase 2
43 Hormone Antagonists Phase 2
44 Cholinergic Antagonists Phase 2
45 Muscarinic Antagonists Phase 2
46 Anesthetics, Intravenous Phase 2
47 Anesthetics, General Phase 2
48 Antihypertensive Agents Phase 2
49 Vasodilator Agents Phase 2
50 Sodium Channel Blockers Phase 2

Interventional clinical trials:

(show top 50) (show all 268)
# 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 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
3 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
4 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
5 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
6 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
7 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
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 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 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
11 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)
12 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
13 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
14 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
15 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
16 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
17 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
18 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
19 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
20 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
21 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
22 Phase II/III Study of Deep Brain Stimulation in Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
23 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
24 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 NG) to Placebo, and Assessing the Short and Long Term Efficacy and Safety of Dysport NG Following Repeated Treatments of Subjects With Cervical Dystonia Completed NCT01261611 Phase 3 Placebo
25 Prospective, Double-blind, Placebo-controlled, Randomized, Multi-center Trial With a Double-blind Parallel-group Extension Period to Investigate the Efficacy and Safety of Different Doses of IncobotulinumtoxinA (Xeomin) in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3 incobotulinumtoxinA (Xeomin) (240 Units);incobotulinumtoxinA (Xeomin) (120 Units);Placebo
26 A Phase III, Prospective, Multicenter, Open-label Extension Study to Assess the Longer Term Safety and Efficacy of Repeated Treatment of Dysport® Intramuscular Injection in the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3
27 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
28 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
29 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
30 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
31 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
32 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
33 Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity Completed NCT02326818 Phase 3
34 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
35 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Multi-Center Trial to Evaluate the Efficacy and Safety of a Single Treatment of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-1) Completed NCT03608397 Phase 3
36 Botulinum Toxin A (Onabotulinumtoxin A) for Foot Dystonia-associated Pain in Parkinson's Disease: A Randomized, Double-blind Placebo Control Study Recruiting NCT04277247 Phase 2, Phase 3 Botulinum toxin type A;Placebo
37 24-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 50 Unit of Neubotulinum Toxin Type A (Neuronox) and 100 Unit of Neubotulinum Toxin Type A (Neuronox) Injection for Cervical Dystonia in Thai Patients Recruiting NCT04582929 Phase 3 Neuronox ® Injection
38 IncobotulinumtoxinA (Xeomin) to Treat Focal Hand Dystonia: a Double-blind Placebo-controlled Randomized Multicenter Study: The "SwissHandSpasm" Study Recruiting NCT03977493 Phase 3 Xeomin;Placebo - Concentrate
39 A Phase 3, Open-Label, Multi-Center Trial to Evaluate the Long-Term Safety and Efficacy of Repeat Treatments of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-OLS) Active, not recruiting NCT03617367 Phase 3
40 A 48-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 250 Unit of Dysport Versus 50 Unit of Neuronox Injection For Cervical Dystonia in Thai Patients Enrolling by invitation NCT03805152 Phase 3 Neuronox(R);Dysport (R)
41 Dexmedetomidine Effects on Microelectrode Recording in Deep Brain Stimulation Withdrawn NCT00608231 Phase 2, Phase 3 Dexmedetomidine Hydrochloride Infusion;Normal Saline
42 ASIS for Botox in Cervical Dystonia Unknown status NCT02074293 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
43 Pilot Open-label and Blinded Clinical Trial of Transcranial Direct-current Stimulation in Childhood Dystonia Unknown status NCT01460771 Phase 2
44 Phase II, Double Blind, Randomized, Placebo Controlled Trial of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
45 Multicenter, Randomized Trial on the Effects of Pallidal Deep Brain Stimulation for Tardive Dystonia Unknown status NCT00331669 Phase 2
46 A Randomized Double Blind Study of Cannabis on Dystonia and Spasticity in Pediatric Patients Unknown status NCT02470325 Phase 2 Avidekel oil;Enriched Avidekel oil
47 Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects Completed NCT00122044 Phase 2 trihexyphenidyl
48 Voice Tremor in Spasmodic Dysphonia: Central Mechanisms and Treatment Response Completed NCT01961297 Phase 2 Sodium oxybate
49 A Placebo-Controlled, Double-Blind, Randomized, Cross Over Pilot Study Of The Efficacy And Tolerability Of Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand Completed NCT02107261 Phase 2 incobotulinumtoxin A
50 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2 Normal Saline

Search NIH Clinical Center for Dystonia

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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

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:

40
Globus Pallidus, Cortex, Subthalamic Nucleus, Cerebellum, Brain, Thalamus, Spinal Cord

Publications for Dystonia

Articles related to Dystonia:

(show top 50) (show all 14875)
# Title Authors PMID Year
1
Botulinum toxin type A therapy for cervical dystonia. 61 42
33180963 2020
2
Quality of life outcomes after globus pallidus internus deep brain stimulation in idiopathic or inherited isolated dystonia: a meta-analysis. 61 42
32732389 2020
3
Dentate nucleus as target for deep brain stimulation in dystono-dyskinetic syndromes. 42 61
32623056 2020
4
Which factors impact on quality of life for adults with blepharospasm and hemifacial spasm? 61
32116098 2021
5
MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency. 61
33552330 2021
6
Brain structural alterations in patients with GCH1 mutations associated DOPA-responsive dystonia. 61
33087420 2021
7
Truncating VPS16 Mutations Are Rare in Early Onset Dystonia. 61
33305852 2021
8
Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia". 61
33305837 2021
9
The development of an implantable deep brain stimulation device with simultaneous chronic electrophysiological recording and stimulation in humans. 61
33395569 2021
10
Probabilistic Mapping of Deep Brain Stimulation: Insights from 15 Years of Therapy. 61
33252146 2021
11
Diagnostic approach to paediatric movement disorders: a clinical practice guide. 61
33150968 2021
12
A missed case of lurasidone induced laryngospasm: A case study and overview of extrapyramidal symptom identification and treatment. 61
32660283 2021
13
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. 61
33236446 2021
14
CACNA1B gene variants in adult-onset isolated focal dystonia. 61
33051750 2021
15
Coagulation of posterior cricoarytenoid muscles for abduction spasmodic dysphonia. 61
33392763 2021
16
Segmental dystonia after radical neck dissection and radiotherapy: a case report. 61
33029665 2021
17
A novel task-specific dystonia type: Hemifacial spasm in a photographer. 61
33156408 2021
18
Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2. 61
32980194 2021
19
Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation. 61
33084096 2021
20
Phenotypic characterization of PIGN-associated paroxysmal dyskinesia in Soft-coated wheaten terriers and preliminary response to acetazolamide therapy. 61
33593494 2021
21
Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism. 61
33026538 2021
22
Movement disorders in primary central nervous system lymphoma: two unreported cases and a review of literature. 61
33443666 2021
23
Functional connectivity of the motor system in dystonia due to PKAN. 61
33537468 2021
24
Characterization of the GABRB2-Associated Neurodevelopmental Disorders. 61
33325057 2021
25
Technology of deep brain stimulation: current status and future directions. 61
33244188 2021
26
The first case of Cri du Chat syndrome with dystonia. 61
33412510 2021
27
TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia. 61
33529159 2021
28
Long term follow-up results of deep brain stimulation of the Globus pallidus interna in pediatric patients with DYT1-positive dystonia. 61
33395620 2021
29
Genetic association study detected misalignment in previous whole exome sequence: association study of ZNF806 and SART3 in tardive dystonia. 61
32941384 2021
30
Erratum to: Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders. 61
33578419 2021
31
Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child. 61
33588860 2021
32
Quality of life in isolated dystonia: non-motor manifestations matter. 61
33563813 2021
33
Contemporary clinical neurophysiology applications in dystonia. 61
33591454 2021
34
Asleep Deep Brain Stimulation in Patients With Isolated Dystonia: Stereotactic Accuracy, Efficacy, and Safety. 61
33325608 2021
35
Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data. 61
31900736 2021
36
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India. 61
32662044 2021
37
Atraumatic trismus induced by duloxetine: an uncommon presentation of acute dystonia. 61
33542006 2021
38
Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients. 61
33595841 2021
39
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. 61
33064266 2021
40
Serotonin Syndrome Associated With Vilazodone Overdose in a 22-Month-Old Treated With Dexmedetomidine. 61
33158691 2021
41
Immunogenicity to Botulinum Toxin Type A: A Systematic Review With Meta-Analysis Across Therapeutic Indications. 61
33528495 2021
42
Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia. 61
33539324 2021
43
The expanding clinical and genetic spectrum of ANO3 dystonia. 61
33388357 2021
44
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism. 61
33585677 2021
45
A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants. 61
33211350 2021
46
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. 61
33410528 2021
47
Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood. 61
33577387 2021
48
Genetic Dystonias: Update on Classification and New Genetic Discoveries. 61
33564903 2021
49
[Clinical characteristics and genetic analysis of a Chinese pedigree affected with thiamine pyrophosphokinase deficiency]. 61
33565067 2021
50
Detection of symptoms of late complications after stroke in young survivors with active surveillance versus usual care. 61
33605166 2021

Variations for Dystonia

ClinVar genetic disease variations for Dystonia:

6 (show top 50) (show all 438)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TH NM_000360.4(TH):c.991G>T (p.Glu331Ter) SNV Pathogenic 840013 11:2187766-2187766 11:2166536-2166536
2 SPR NC_000002.12:g.(?_72887413)_(72891557_?)del Deletion Pathogenic 831031 2:73114542-73118686
3 TH NM_000360.4(TH):c.448C>T (p.Gln150Ter) SNV Pathogenic 691995 rs1590169710 11:2189760-2189760 11:2168530-2168530
4 TH NM_000360.4(TH):c.78del (p.Glu27fs) Deletion Pathogenic 946763 11:2192939-2192939 11:2171709-2171709
5 TH NM_000360.4(TH):c.646G>A (p.Gly216Ser) SNV Pathogenic 948892 11:2188714-2188714 11:2167484-2167484
6 TH NM_000360.4(TH):c.990del (p.His330fs) Deletion Pathogenic 969618 11:2187767-2187767 11:2166537-2166537
7 SPR NM_003124.5(SPR):c.615dup (p.Gln206fs) Duplication Pathogenic 842660 2:73118494-73118495 2:72891365-72891366
8 GCH1 NM_000161.3(GCH1):c.126dup (p.Glu43fs) Duplication Pathogenic 560371 rs1566687487 14:55369255-55369256 14:54902537-54902538
9 TH NM_199292.2(TH):c.-70G>A SNV Pathogenic 526213 rs1372180906 11:2193086-2193086 11:2171856-2171856
10 WDR73 NM_032856.5(WDR73):c.681T>A (p.Cys227Ter) SNV Pathogenic 812996 rs1596050386 15:85188904-85188904 15:84645673-84645673
11 KMT2B NM_014727.3(KMT2B):c.3024_3025AG[1] (p.Glu1009fs) Microsatellite Pathogenic 813002 rs1599676503 19:36214370-36214371 19:35723468-35723469
12 MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg) SNV Pathogenic 242881 rs1114167290 15:52632432-52632432 15:52340235-52340235
13 WDR45 NM_001029896.2(WDR45):c.69_75del (p.Cys23fs) Deletion Pathogenic 813007 rs1602540581 X:48935551-48935557 X:49077892-49077898
14 ATP4A Deletion Pathogenic 812929 19:35553425-36264299
15 TH NM_000360.4(TH):c.1388C>T (p.Thr463Met) SNV Pathogenic 12326 rs45471299 11:2185569-2185569 11:2164339-2164339
16 TH NM_000360.4(TH):c.364C>T (p.Arg122Ter) SNV Pathogenic 449110 rs771610752 11:2189844-2189844 11:2168614-2168614
17 TH NM_000360.4(TH):c.1035_1045del (p.Gln346fs) Deletion Pathogenic 639906 rs1590166832 11:2187712-2187722 11:2166482-2166492
18 TH NM_000360.4(TH):c.203del (p.Leu68fs) Deletion Pathogenic 557613 rs1554923852 11:2190989-2190989 11:2169759-2169759
19 TH NM_000360.4(TH):c.601C>T (p.Gln201Ter) SNV Pathogenic 371630 rs1057517423 11:2189139-2189139 11:2167909-2167909
20 TH NM_000360.4(TH):c.90+7dup Duplication Pathogenic 555224 rs780485650 11:2192917-2192918 11:2171687-2171688
21 EIF2B5 NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys) SNV Pathogenic 598970 rs113994063 3:183858305-183858305 3:184140517-184140517
22 SPR NM_003124.5(SPR):c.448A>G (p.Arg150Gly) SNV Pathogenic 12941 rs104893665 2:73115586-73115586 2:72888457-72888457
23 CEP104 NM_014704.4(CEP104):c.89del (p.Thr30fs) Deletion Pathogenic 812756 rs1570858523 1:3768883-3768883 1:3852319-3852319
24 PANK2 NM_153638.3(PANK2):c.1441C>T (p.Arg481Ter) SNV Pathogenic 4557 rs137852968 20:3897602-3897602 20:3916955-3916955
25 GJC2 NM_020435.4(GJC2):c.107del (p.Ile36fs) Deletion Pathogenic 625200 rs1571907430 1:228345566-228345566 1:228157865-228157865
26 SPR NM_003124.5(SPR):c.305-2A>G SNV Pathogenic 625209 rs1573882268 2:73115441-73115441 2:72888312-72888312
27 KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs) Deletion Pathogenic 813003 rs1599677213 19:36214713-36214719 19:35723812-35723818
28 PNPLA4 Deletion Pathogenic 813270 X:6453783-8133115
29 AFG3L2 NM_006796.3(AFG3L2):c.1064C>T SNV Pathogenic 385335 rs1057522195 18:12356793-12356793 18:12356794-12356794
30 AFG3L2 NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer) Microsatellite Pathogenic 973111 18:12340278-12340279 18:12340279-12340280
31 C19orf12 NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg) SNV Pathogenic 31157 rs515726205 19:30193873-30193873 19:29702966-29702966
32 CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297
33 TH NM_000360.4(TH):c.614T>C (p.Leu205Pro) SNV Pathogenic 12325 rs121917763 11:2189126-2189126 11:2167896-2167896
34 TH NM_000360.4(TH):c.605G>A (p.Arg202His) SNV Pathogenic 12327 rs80338892 11:2189135-2189135 11:2167905-2167905
35 RHOBTB2 NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln) SNV Pathogenic 545418 rs1554504684 8:22865224-22865224 8:23007711-23007711
36 TH NM_000360.4(TH):c.1400A>G (p.Asp467Gly) SNV Pathogenic 304067 rs771351747 11:2185557-2185557 11:2164327-2164327
37 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
38 SPR NM_003124.5(SPR):c.751A>T (p.Lys251Ter) SNV Pathogenic 12944 rs121917747 2:73118631-73118631 2:72891502-72891502
39 C19orf12 NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) SNV Pathogenic 31158 rs146170087 19:30193654-30193654 19:29702747-29702747
40 TOR1A NM_000113.3(TOR1A):c.907_909delGAG (p.Glu303del) Microsatellite Pathogenic 5180 rs80358233 9:132576341-132576343 9:129814062-129814064
41 ATP1A3 NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) SNV Likely pathogenic 37107 19:42474557-42474557 19:41970405-41970405
42 GNB1 NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr) SNV Likely pathogenic 812755 rs1570640673 1:1735936-1735936 1:1804497-1804497
43 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) SNV Likely pathogenic 522269 rs1553547838 2:200193432-200193432 2:199328709-199328709
44 CAMK2B NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) SNV Likely pathogenic 430922 rs1554389088 7:44283125-44283125 7:44243526-44243526
45 TH NM_000360.4(TH):c.1141C>A (p.Gln381Lys) SNV Likely pathogenic 12324 rs121917762 11:2186957-2186957 11:2165727-2165727
46 TH NM_000360.4(TH):c.91-818G>A SNV Likely pathogenic 554554 rs753403788 11:2191919-2191919 11:2170689-2170689
47 ANO3 NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys) SNV Likely pathogenic 641954 rs1590612392 11:26619992-26619992 11:26598445-26598445
48 GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) SNV Likely pathogenic 625211 rs780680047 X:122613916-122613916 X:123480065-123480065
49 PCDH12 NM_016580.3(PCDH12):c.2008G>T (p.Glu670Ter) SNV Likely pathogenic 619128 rs531630376 5:141335409-141335409 5:141955844-141955844
50 MT-ND6 NC_012920.1:m.14597A>G SNV Likely pathogenic 209173 rs797045055 MT:14597-14597 MT:14597-14597

Expression for Dystonia

Search GEO for disease gene expression data for Dystonia.

Pathways for Dystonia

Pathways related to Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.26 TH SPR GCH1

GO Terms for Dystonia

Cellular components related to Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 WDR73 WDR45 TOR1A TH SPR PNPLA4
2 cytosol GO:0005829 9.47 WDR73 WDR45 TOR1A TH SPR RHOBTB2

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial calcium ion homeostasis GO:0051560 9.26 C19orf12 AFG3L2
2 nitric oxide biosynthetic process GO:0006809 9.16 SPR GCH1
3 dopamine biosynthetic process GO:0042416 8.96 TH GCH1
4 tetrahydrobiopterin biosynthetic process GO:0006729 8.62 SPR GCH1

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

# Name GO ID Score Top Affiliating Genes
1 translation initiation factor binding GO:0031369 8.62 GCH1 EIF2B5

Sources for Dystonia

3 CDC
7 CNVD
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11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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32 ICD10
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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