MCID: DYS154
MIFTS: 66

Dystonia

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Dystonia

Summaries for Dystonia

NINDS: 52 Dystonia is a movement disorder that involves unintended (involuntary) muscle contractions that can cause twisting and repetitive movements or abnormal postures. The movements are sometimes painful.  There are several different forms of dystonia that may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Dystonia can occur at any age. Symptoms may include: a worsening in handwriting foot cramps and pain from muscle contractions a dragging foot after running or walking some distance tremor, and voice or speech difficulties. The dystonias can be divided into three groups: idiopathic dystonia, which does not have a clear cause genetic, which may involve one or more gene mutations, and acquired, which results from environmental or other damage to the brain, or from exposure to certain types of medications. Different forms of dystonia include: generalized dystonia, which affects most or all of the body focal dystonia, which is localized to a specific part of the body, such as the muscles in the neck or the muscles controlling eye blink, and task-specific dystonia, which tends to occur only when peforming a particular repetitive activity, such as writer's cramp.

MalaCards based summary: Dystonia, also known as dystonic disorder, is related to dystonia 12 and dystonia, dopa-responsive, and has symptoms including tremor, myoclonus and back pain. An important gene associated with Dystonia is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3), and among its related pathways/superpathways are Autophagy and Alpha-synuclein signaling. The drugs Levodopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus, brain and subthalamic nucleus, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

MedlinePlus: 41 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

Disease Ontology: 11 A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.

Wikipedia: 75 Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle... more...

Related Diseases for Dystonia

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Dystonia 30
Dystonia 31 Dystonia 32
Dystonia 33 Hereditary Dystonia
Kmt2b-Related Dystonia Rare Dystonia
Dystonia 28

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

(show top 50) (show all 1340)
# Related Disease Score Top Affiliating Genes
1 dystonia 12 34.0 TOR1A PANK2 KMT2B GNAL GCH1 ATP1A3
2 dystonia, dopa-responsive 33.9 TOR1A TH SPR GCH1 ATP1A3
3 dystonia 11, myoclonic 33.8 TOR1A GNAL GCH1 ATP1A3
4 dystonia 3, torsion, x-linked 33.7 TOR1A GCH1 ATP1A3
5 dystonia 1, torsion, autosomal dominant 33.6 TOR1A GNAL GCH1
6 cervical dystonia 33.5 TOR1A PANK2 GNAL GCH1 ATP1A3
7 focal dystonia 33.5 TOR1A PANK2 GNAL GCH1 ATP1A3
8 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 33.5 TH SPR GCH1 ATP1A3
9 oromandibular dystonia 33.4 TOR1A PANK2 GNAL GCH1 C19orf12 ATP1A3
10 segawa syndrome, autosomal recessive 33.2 TH GCH1
11 movement disease 33.2 WDR45 TOR1A TH SPR PANK2 NKX2-1
12 spasmodic dystonia 33.2 TOR1A PANK2 KMT2B GNAL GCH1 ATP1A3
13 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 33.2 TH GCH1
14 segmental dystonia 33.1 TOR1A SPR GNAL GCH1 ATP1A3
15 dystonia 25 33.1 TOR1A GNAL
16 hereditary lymphedema ii 33.0 TOR1A GNAL GJC2
17 focal hand dystonia 33.0 TOR1A GNAL GCH1
18 multifocal dystonia 32.9 TOR1A GNAL GCH1 ATP1A3
19 hereditary spastic paraplegia 35 32.8 WDR45 PANK2 C19orf12
20 torsion dystonia 2 32.8 TOR1A GNAL
21 blepharospasm 32.8 TOR1A PANK2 GNAL GCH1 ATP1A3
22 neurodegeneration with brain iron accumulation 32.7 WDR45 TOR1A PANK2 C19orf12 ATP1A3
23 neurodegeneration with brain iron accumulation 1 32.6 WDR45 TOR1A PANK2 C19orf12
24 parkinsonism 32.6 WDR45 TOR1A TH PANK2 GCH1 C19orf12
25 neurodegeneration with brain iron accumulation 5 32.5 WDR45 PANK2 C19orf12
26 neurodegeneration with brain iron accumulation 3 32.5 WDR45 PANK2 C19orf12
27 lymphatic malformation 5 32.4 TOR1A GNAL
28 hemidystonia 32.4 TOR1A GNAL GCH1 ATP1A3
29 hyperphenylalaninemia, bh4-deficient, a 32.4 TH SPR GCH1
30 alternating hemiplegia of childhood 32.3 TOR1A RHOBTB2 GNAL GCH1 ATP1A3
31 hyperphenylalaninemia, bh4-deficient, b 32.3 TH SPR GCH1
32 leukodystrophy, hypomyelinating, 6 32.3 GNAL GJC2 ATP1A3
33 aromatic l-amino acid decarboxylase deficiency 32.2 TH SPR GCH1
34 oculogyric crisis 32.2 TH SPR GCH1 ATP1A3
35 woodhouse-sakati syndrome 32.2 WDR45 PANK2 C19orf12
36 neurodegeneration with brain iron accumulation 4 32.2 WDR45 PANK2 C19orf12
37 kufor-rakeb syndrome 32.2 WDR45 PANK2 C19orf12
38 aceruloplasminemia 32.1 WDR45 PANK2 CEP104 C19orf12 AFG3L2
39 neurodegeneration with brain iron accumulation 2b 32.0 WDR45 PANK2 C19orf12
40 myoclonus 31.9 KMT2B CSTB AFG3L2
41 choreatic disease 31.7 TOR1A TH RHOBTB2 PANK2 NKX2-1 GNAL
42 hereditary spastic paraplegia 31.2 WDR45 PANK2 GJC2 C19orf12 ATP1A3 AFG3L2
43 neurodegeneration with brain iron accumulation 2a 31.1 WDR45 PANK2 C19orf12
44 hyperphenylalaninemia 31.1 TH SPR GCH1
45 optic nerve disease 30.9 C19orf12 ATP1A3 AFG3L2
46 early-onset parkinson's disease 30.9 WDR45 PANK2 C19orf12
47 neuroaxonal dystrophy 30.9 WDR45 PANK2 C19orf12
48 alcohol-related neurodevelopmental disorder 30.8 WDR45 PANK2 C19orf12
49 parkinson disease 15, autosomal recessive early-onset 30.4 WDR45 PANK2 C19orf12
50 oculomotor apraxia 30.1 CEP104 AFG3L2

Graphical network of the top 20 diseases related to Dystonia:



Diseases related to Dystonia

Symptoms & Phenotypes for Dystonia

UMLS symptoms related to Dystonia:


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

GenomeRNAi Phenotypes related to Dystonia according to GeneCards Suite gene sharing:

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 AFG3L2 ARF3 ATP1A3 C19orf12 CEP104 CSTB
2 no effect GR00402-S-2 10.18 ATP1A3 C19orf12 CEP104 CSTB GCH1 GJC2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.89 EIF2B5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.89 EIF2B5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.89 ATP1A3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.89 EIF2B5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.89 EIF2B5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.89 AFG3L2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.89 AFG3L2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.89 AFG3L2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.89 ATP1A3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.89 ATP1A3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.89 ATP1A3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.89 ATP1A3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.89 EIF2B5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.89 ATP1A3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.89 ATP1A3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.89 AFG3L2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.89 AFG3L2

MGI Mouse Phenotypes related to Dystonia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.17 AFG3L2 ATP1A3 CSTB EIF2B5 GCH1 GJC2
2 growth/size/body region MP:0005378 10.1 AFG3L2 ATP1A3 CSTB EIF2B5 GCH1 GNAL
3 behavior/neurological MP:0005386 10 AFG3L2 ATP1A3 CSTB EIF2B5 GCH1 GJC2
4 vision/eye MP:0005391 9.61 ARF3 CSTB EIF2B5 GJC2 GNB1 PANK2
5 mortality/aging MP:0010768 9.47 AFG3L2 ATP1A3 EIF2B5 GCH1 GJC2 GNAL

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 4 59-92-7, 63-84-3 6047
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Olanzapine Approved, Investigational Phase 4 132539-06-1 135398745 4585
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
incobotulinumtoxinA Phase 4
10 Psychotropic Drugs Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Analgesics Phase 4
13 rimabotulinumtoxinB Phase 4
14 Dopamine Antagonists Phase 4
15 Dopamine Agents Phase 4
16 Antipsychotic Agents Phase 4
17 Antiemetics Phase 4
18 Serotonin Uptake Inhibitors Phase 4
19 Gastrointestinal Agents Phase 4
20 Anti-Infective Agents Phase 4
21 Antiviral Agents Phase 4
22 Neurotransmitter Agents Phase 4
23 Anticonvulsants Phase 4
24 Bromides Phase 4
25
Pyridostigmine Bromide Phase 4 101-26-8
26 Cholinesterase Inhibitors Phase 4
27 Cholinergic Agents Phase 4
28 Botulinum Toxins Phase 4
29
abobotulinumtoxinA Phase 4
30 Botulinum Toxins, Type A Phase 4
31
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
32
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
33 Hormones Phase 3
34 Pharmaceutical Solutions Phase 3
35 Calcium, Dietary Phase 3
36 calcium channel blockers Phase 3
37
Calcium Nutraceutical Phase 3 7440-70-2 271
38
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
39
Trihexyphenidyl Approved Phase 2 144-11-6 5572
40
Mexiletine Approved, Investigational Phase 2 5370-01-4, 31828-71-4 4178
41
Amlodipine Approved Phase 2 88150-42-9 2162
42
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
43
Promethazine Approved, Investigational Phase 2 60-87-7 4927
44
Levetiracetam Approved Phase 2 102767-28-2 441341 5284583
45 Hormone Antagonists Phase 2
46 Hallucinogens Phase 2
47 Muscarinic Antagonists Phase 2
48 Cholinergic Antagonists Phase 2
49 Anti-Arrhythmia Agents Phase 2
50 Sodium Channel Blockers Phase 2

Interventional clinical trials:

(show top 50) (show all 291)
# 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 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
3 Randomisierte, Doppelblinde Langzeitstudie Zur Klinischen Wirksamkeit Der Bilateralen Globus Pallidus Internus-Stimulation Bei Idiopathischer Generalisierter Oder Segmentaler Dystonie Unknown status NCT00142259 Phase 4
4 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
5 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
6 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
7 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
8 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
9 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
10 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)
11 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
12 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
13 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
14 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
15 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
16 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
17 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
18 Pilot Study of the Efficacy of Pyridostigmine for Reversal of Post Injection Dysphonia Following Botulinum Neurotoxin Laryngeal Chemo-Denervation in Spasmodic Dysphonia Recruiting NCT05110417 Phase 4 Pyridostigmine Bromide 60 Milligrams (mg)
19 Prospective, Open-label Clinical Study of Ingrezza (Valbenazine) for the Treatment of Cervical Dystonia Enrolling by invitation NCT05157100 Phase 4 Ingrezza Pill
20 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
21 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
22 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
23 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
24 IncobotulinumtoxinA (Xeomin) to Treat Focal Hand Dystonia: a Double-blind Placebo-controlled Randomized Multicenter Study: The "SwissHandSpasm" Study Unknown status NCT03977493 Phase 3 Xeomin;Placebo - Concentrate
25 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 Completed NCT03805152 Phase 3 Neuronox(R);Dysport (R)
26 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
27 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 Completed NCT04582929 Phase 3 Neuronox ® Injection
28 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
29 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
30 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) Completed NCT03617367 Phase 3
31 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
32 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
33 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
34 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
35 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
36 Phase II/III Study of Deep Brain Stimulation in Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
37 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
38 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
39 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
40 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
41 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
42 Dexmedetomidine Effects on Microelectrode Recording in Deep Brain Stimulation Withdrawn NCT00608231 Phase 2, Phase 3 Dexmedetomidine Hydrochloride Infusion;Normal Saline
43 Comparison of Clinical and Kinematic Assessment in the Determination of Botox® Injection Parameters in Cervical Dystonia Patients Unknown status NCT02662530 Phase 2 Botulinum Toxin Type A
44 Phase II, Double Blind, Randomized, Placebo Controlled Trial of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
45 ASIS for Botox in Cervical Dystonia Unknown status NCT02074293 Phase 1, Phase 2 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
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 Multicenter, Randomized Trial on the Effects of Pallidal Deep Brain Stimulation for Tardive Dystonia Unknown status NCT00331669 Phase 2
48 Pilot Open-label and Blinded Clinical Trial of Transcranial Direct-current Stimulation in Childhood Dystonia Unknown status NCT01460771 Phase 2
49 A Pilot Dose Ranging Study of Dysport® (AbobotulinumtoxinA) in the Treatment of Oromandibular Dystonia Completed NCT01921270 Phase 1, Phase 2 Low Dose - AbobotulinumtoxinA
50 Deep Brain Stimulation of the Globus Pallidus Interna or the Subthalamic Nucleus for Treatment of Generalized Primary Dystonia Completed NCT00105430 Phase 2

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

Genetic Tests for Dystonia

Genetic tests related to Dystonia:

# Genetic test Affiliating Genes
1 Dystonic Disorder 28

Anatomical Context for Dystonia

Organs/tissues related to Dystonia:

MalaCards : Globus Pallidus, Brain, Subthalamic Nucleus, Eye, Cerebellum, Cortex, Thalamus

Publications for Dystonia

Articles related to Dystonia:

(show top 50) (show all 16355)
# Title Authors PMID Year
1
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. 62 5
33150406 2020
2
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 62 5
30459466 2019
3
An unusual presentation of tyrosine hydroxylase deficiency. 62 5
29225908 2017
4
Clinical and genetic features of cervical dystonia in a large multicenter cohort. 62 5
27123488 2016
5
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials. 62 5
25763508 2015
6
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. 62 5
24930953 2014
7
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. 62 5
24931141 2014
8
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 62 5
24753243 2014
9
GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome. 62 5
24405754 2014
10
Mutations in GNAL cause primary torsion dystonia. 62 5
23222958 2013
11
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. 62 5
22522443 2012
12
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. 62 5
21431957 2011
13
Whole-genome sequencing for optimized patient management. 62 5
21677200 2011
14
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 62 5
20823027 2011
15
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 62 5
20430833 2010
16
Marked improvement in Segawa syndrome after L-dopa and selegiline treatment. 62 5
20399390 2010
17
Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. 62 5
19651773 2009
18
LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. 62 5
19339278 2009
19
Consequences of the DYT1 mutation on torsinA oligomerization and degradation. 62 5
18940237 2008
20
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 62 5
17696123 2007
21
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 62 5
16917893 2006
22
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein. 62 5
15468323 2005
23
Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene. 62 5
12481989 2002
24
Inherited and de novo mutations in sporadic cases of DYT1-dystonia. 62 5
11973627 2002
25
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. 62 5
11160968 2001
26
DYT1 Early-Onset Isolated Dystonia 62 5
20301665 1999
27
The role of DYT1 in primary torsion dystonia in Europe. 62 5
9874484 1998
28
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 62 5
9703425 1998
29
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 62 5
9288096 1997
30
Micro lesion effect of pallidal deep‑brain stimulation for meige syndrome. 62 41
36411289 2022
31
Obsessive-compulsive symptoms are negatively correlated with motor severity in patients with generalized dystonia. 62 41
36437372 2022
32
Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models. 62 41
36361624 2022
33
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
34
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 5
32219868 2020
35
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. 5
29116116 2017
36
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
37
Very early pattern of movement disorders in sepiapterin reductase deficiency. 5
24212389 2013
38
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 5
21465550 2011
39
Two Greek siblings with sepiapterin reductase deficiency. 5
18502672 2008
40
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 5
11246459 2000
41
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). 5
10407773 1999
42
Role of gabapentin in reducing the need for high-risk medications in patients with stable severe neurological impairment. 62
36398026 2023
43
Dystonia in individuals with spastic cerebral palsy and isolated periventricular leukomalacia. 62
35661146 2023
44
The Pathology of Primary Familial Brain Calcification: Implications for Treatment. 62
36469195 2022
45
Therapeutic Efficacy and Prediction of 18F-FDG PET/CT-Assisted Botulinum Toxin Therapy in Patients With Idiopathic Cervical Dystonia. 62
36342802 2022
46
[Genotypes and phenotypes of IQSEC2 gene variants related epilepsy]. 62
36444437 2022
47
Myoclonic dystonia (DYT11) responsive to lacosamide: a case report. 62
34273089 2022
48
The epidemiology of dystonia: the Hannover epidemiology study. 62
35948800 2022
49
Pathophysiological studies of aging Slc39a14 knockout mice to assess the progression of manganese-induced dystonia-parkinsonism. 62
36152728 2022
50
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. 62
35925398 2022

Variations for Dystonia

ClinVar genetic disease variations for Dystonia:

5 (show top 50) (show all 651)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TH NM_000360.4(TH):c.1388C>T (p.Thr463Met) SNV Pathogenic
12326 rs45471299 GRCh37: 11:2185569-2185569
GRCh38: 11:2164339-2164339
2 GCH1 NM_000161.3(GCH1):c.126dup (p.Glu43fs) DUP Pathogenic
560371 rs1566687487 GRCh37: 14:55369255-55369256
GRCh38: 14:54902537-54902538
3 MYO5A NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg) SNV Pathogenic
242881 rs1114167290 GRCh37: 15:52632432-52632432
GRCh38: 15:52340235-52340235
4 TH NM_000360.4(TH):c.448C>T (p.Gln150Ter) SNV Pathogenic
691995 rs1590169710 GRCh37: 11:2189760-2189760
GRCh38: 11:2168530-2168530
5 CEP104 NM_014704.4(CEP104):c.89del (p.Thr30fs) DEL Pathogenic
812756 rs1570858523 GRCh37: 1:3768883-3768883
GRCh38: 1:3852319-3852319
6 overlap with 35 genes DEL Pathogenic
812929 GRCh37: 19:35553425-36264299
GRCh38:
7 WDR73 NM_032856.5(WDR73):c.681T>A (p.Cys227Ter) SNV Pathogenic
812996 rs1596050386 GRCh37: 15:85188904-85188904
GRCh38: 15:84645673-84645673
8 KMT2B NM_014727.3(KMT2B):c.3026_3027del (p.Glu1009fs) MICROSAT Pathogenic
813002 rs1599676503 GRCh37: 19:36214370-36214371
GRCh38: 19:35723468-35723469
9 KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs) DEL Pathogenic
813003 rs1599677213 GRCh37: 19:36214713-36214719
GRCh38: 19:35723812-35723818
10 WDR45 NM_001029896.2(WDR45):c.69_75del (p.Cys23fs) DEL Pathogenic
813007 rs1602540581 GRCh37: X:48935551-48935557
GRCh38: X:49077892-49077898
11 overlap with 4 genes DEL Pathogenic
813270 GRCh37: X:6453783-8133115
GRCh38:
12 SPR NC_000002.12:g.(?_72887413)_(72891557_?)del DEL Pathogenic
831031 GRCh37: 2:73114542-73118686
GRCh38:
13 AFG3L2 NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer) MICROSAT Pathogenic
973111 rs1907906060 GRCh37: 18:12340278-12340279
GRCh38: 18:12340279-12340280
14 SPR NC_000002.11:g.(?_73114562)_(73115753_?)del DEL Pathogenic
1458146 GRCh37: 2:73114562-73115753
GRCh38:
15 GNAL and overlap with 1 gene(s) NC_000018.9:g.(?_11752433)_(11881134_?)del DEL Pathogenic
1460398 GRCh37: 18:11752433-11881134
GRCh38:
16 TH NM_000360.4(TH):c.1035_1045del (p.Gln346fs) DEL Pathogenic
639906 rs1590166832 GRCh37: 11:2187712-2187722
GRCh38: 11:2166482-2166492
17 PANK2 NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) SNV Pathogenic
4557 rs137852968 GRCh37: 20:3897602-3897602
GRCh38: 20:3916955-3916955
18 C19orf12 NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) SNV Pathogenic
31157 rs515726205 GRCh37: 19:30193873-30193873
GRCh38: 19:29702966-29702966
19 SPR NM_003124.5(SPR):c.615dup (p.Gln206fs) DUP Pathogenic
842660 rs1670619549 GRCh37: 2:73118494-73118495
GRCh38: 2:72891365-72891366
20 GNAL NM_001369387.1(GNAL):c.91C>T (p.Gln31Ter) SNV Pathogenic
1454252 GRCh37: 18:11752523-11752523
GRCh38: 18:11752524-11752524
21 GNAL NM_182978.4(GNAL):c.710_713del (p.Asp237fs) DEL Pathogenic
1457837 GRCh37: 18:11825000-11825003
GRCh38: 18:11825001-11825004
22 GNAL NM_001369387.1(GNAL):c.55_64dup (p.Arg22fs) DUP Pathogenic
1451598 GRCh37: 18:11752486-11752487
GRCh38: 18:11752487-11752488
23 EIF2B5 NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys) SNV Pathogenic
598970 rs113994063 GRCh37: 3:183858305-183858305
GRCh38: 3:184140517-184140517
24 GJC2 NM_020435.4(GJC2):c.107del (p.Ile36fs) DEL Pathogenic
625200 rs1571907430 GRCh37: 1:228345566-228345566
GRCh38: 1:228157865-228157865
25 SPR NM_003124.5(SPR):c.305-2A>G SNV Pathogenic
625209 rs1573882268 GRCh37: 2:73115441-73115441
GRCh38: 2:72888312-72888312
26 ARF3 NM_001659.3(ARF3):c.200A>T (p.Asp67Val) SNV Pathogenic
1697211 GRCh37: 12:49333839-49333839
GRCh38: 12:48940056-48940056
27 SPR NM_003124.5(SPR):c.751A>T (p.Lys251Ter) SNV Pathogenic
12944 rs121917747 GRCh37: 2:73118631-73118631
GRCh38: 2:72891502-72891502
28 SPR NM_003124.5(SPR):c.448A>G (p.Arg150Gly) SNV Pathogenic
12941 rs104893665 GRCh37: 2:73115586-73115586
GRCh38: 2:72888457-72888457
29 RHOBTB2 NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) SNV Pathogenic
545418 rs1554504684 GRCh37: 8:22865224-22865224
GRCh38: 8:23007711-23007711
30 CSTB NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) SNV Pathogenic
8396 rs74315442 GRCh37: 21:45194178-45194178
GRCh38: 21:43774297-43774297
31 AFG3L2 NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) SNV Pathogenic
385335 rs1057522195 GRCh37: 18:12356793-12356793
GRCh38: 18:12356794-12356794
32 NKX2-1, SFTA3 NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) SNV Pathogenic
217884 rs863225300 GRCh37: 14:36987165-36987165
GRCh38: 14:36517960-36517960
33 C19orf12 NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) SNV Pathogenic
31158 rs146170087 GRCh37: 19:30193654-30193654
GRCh38: 19:29702747-29702747
34 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic
208722 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
35 TOR1A NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) MICROSAT Pathogenic
5180 rs80358233 GRCh37: 9:132576341-132576343
GRCh38: 9:129814062-129814064
36 TH NM_199292.2(TH):c.-70G>A SNV Pathogenic
526213 rs1372180906 GRCh37: 11:2193086-2193086
GRCh38: 11:2171856-2171856
37 ATP1A3 NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) SNV Pathogenic
37108 rs387907281 GRCh37: 19:42474436-42474436
GRCh38: 19:41970284-41970284
38 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) SNV Likely Pathogenic
522269 rs1553547838 GRCh37: 2:200193432-200193432
GRCh38: 2:199328709-199328709
39 ATP1A3 NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) SNV Likely Pathogenic
37107 GRCh37: 19:42474557-42474557
GRCh38: 19:41970405-41970405
40 CASK NM_001367721.1(CASK):c.2521-2A>G SNV Likely Pathogenic
265316 rs398122845 GRCh37: X:41383289-41383289
GRCh38: X:41524036-41524036
41 GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) SNV Likely Pathogenic
625211 rs780680047 GRCh37: X:122613916-122613916
GRCh38: X:123480065-123480065
42 GNB1 NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr) SNV Likely Pathogenic
812755 rs1570640673 GRCh37: 1:1735936-1735936
GRCh38: 1:1804497-1804497
43 CAMK2B NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) SNV Likely Pathogenic
430922 rs1554389088 GRCh37: 7:44283125-44283125
GRCh38: 7:44243526-44243526
44 ARF3 NM_001659.3(ARF3):c.34C>G (p.Leu12Val) SNV Likely Pathogenic
1697208 GRCh37: 12:49334845-49334845
GRCh38: 12:48941062-48941062
45 MECP2 NM_001110792.2(MECP2):c.148_152del (p.Glu50fs) DEL Likely Pathogenic
813009 rs1603310867 GRCh37: X:153297919-153297923
GRCh38: X:154032468-154032472
46 GNAL NM_001369387.1(GNAL):c.37G>T (p.Asp13Tyr) SNV Likely Pathogenic
1043845 rs2032882195 GRCh37: 18:11752469-11752469
GRCh38: 18:11752470-11752470
47 PANK2 NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) SNV Likely Pathogenic
812786 rs559623184 GRCh37: 20:3897593-3897593
GRCh38: 20:3916946-3916946
48 TH NC_000011.10:g.(?_2166470)_(2168675_?)del DEL Likely Pathogenic
831834 GRCh37: 11:2187700-2189905
GRCh38:
49 ANO3 NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys) SNV Likely Pathogenic
641954 rs1590612392 GRCh37: 11:26619992-26619992
GRCh38: 11:26598445-26598445
50 NPC1 NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) SNV Likely Pathogenic
374166 rs113371321 GRCh37: 18:21114441-21114441
GRCh38: 18:23534477-23534477

Expression for Dystonia

Search GEO for disease gene expression data for Dystonia.

Pathways for Dystonia

GO Terms for Dystonia

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

# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.46 GNB1 GNAL
2 dopamine biosynthetic process GO:0042416 9.26 TH GCH1
3 tetrahydrobiopterin biosynthetic process GO:0006729 8.92 SPR GCH1

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.65 RHOBTB2 GNB1 GNAL GCH1 ARF3
2 nucleotide binding GO:0000166 9.23 TOR1A RHOBTB2 PANK2 GNAL GCH1 ATP1A3

Sources for Dystonia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....