MCID: DYS154
MIFTS: 65

Dystonia

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

Aliases & Classifications for Dystonia

MalaCards integrated aliases for Dystonia:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:543
NCIt 49 C34563
SNOMED-CT 67 15802004
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, myoclonus and tremor. An important gene associated with Dystonia is TOR1A (Torsin Family 1 Member A), and among its related pathways/superpathways are Neuroscience and Amphetamine addiction. The drugs Risperidone and Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and cortex, and related phenotypes are Decreased viability and Decreased viability

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 1067)
# Related Disease Score Top Affiliating Genes
1 dystonia 12 36.0 TOR1A PANK2 KMT2B GCH1 ATP1A3 ANO3
2 dystonia, dopa-responsive 36.0 TOR1A TH SPR GCH1 ATP1A3
3 dystonia 11, myoclonic 35.9 TOR1A PANK2 GCH1 ATP1A3 ANO3
4 cervical dystonia 35.8 TOR1A TH SPR GCH1 ATP1A3 ANO3
5 dystonia 1, torsion, autosomal dominant 35.8 TOR1A GCH1 ANO3
6 dystonia 3, torsion, x-linked 35.7 TOR1A GCH1 ATP1A3
7 oromandibular dystonia 35.6 TOR1A PANK2 GCH1 C19orf12 ATP1A3 ANO3
8 focal dystonia 35.5 TOR1A PANK2 GCH1 ATP1A3 ANO3
9 multifocal dystonia 35.2 TOR1A SPR GCH1 ATP1A3 ANO3
10 spasmodic dystonia 35.2 TOR1A GCH1 ATP1A3 ANO3
11 segmental dystonia 35.2 TOR1A GCH1 ATP1A3 ANO3
12 focal hand dystonia 35.2 TOR1A PANK2 GCH1 ANO3
13 isolated dystonia 34.9 TOR1A GCH1 ANO3
14 hereditary dystonia 34.9 TH GCH1 ATP1A3 ANO3
15 cranio-facial dystonia 34.8 TOR1A GCH1
16 torsion dystonia 2 34.7 TOR1A ANO3
17 segawa syndrome, autosomal recessive 34.6 TH GCH1
18 dystonia 25 34.6 TOR1A ANO3
19 lymphatic malformation 5 34.6 TOR1A GCH1
20 spastic paraplegia 35, autosomal recessive 34.4 WDR45 PANK2 C19orf12
21 blepharospasm 34.3 TOR1A PANK2 GCH1 ATP1A3 ANO3
22 neurodegeneration with brain iron accumulation 34.1 WDR45 TOR1A PANK2 GCH1 C19orf12 ATP1A3
23 movement disease 34.0 TOR1A TH PANK2 GCH1 ATP1A3 ANO3
24 hemidystonia 33.7 TOR1A SPR GCH1 ATP1A3 ANO3
25 neurodegeneration with brain iron accumulation 3 33.6 WDR45 PANK2 C19orf12
26 neurodegeneration with brain iron accumulation 1 33.6 WDR45 PANK2 C19orf12
27 neurodegeneration with brain iron accumulation 4 33.4 WDR45 PANK2 C19orf12
28 alternating hemiplegia of childhood 33.3 GCH1 ATP1A3 ANO3
29 oculogyric crisis 33.3 SPR GCH1 ATP1A3
30 neurodegeneration with brain iron accumulation 5 33.2 WDR45 PANK2 C19orf12
31 aceruloplasminemia 33.2 WDR45 PANK2 CEP104 C19orf12
32 kufor-rakeb syndrome 33.1 WDR45 PANK2 C19orf12
33 hyperphenylalaninemia, bh4-deficient, a 33.1 SPR GCH1
34 neurodegeneration with brain iron accumulation 6 33.0 WDR45 PANK2 C19orf12
35 hyperphenylalaninemia, bh4-deficient, b 33.0 TH GCH1
36 neurodegeneration with brain iron accumulation 2b 32.7 WDR45 PANK2 C19orf12
37 lingual-facial-buccal dyskinesia 32.4 WDR73 PANK2 CSTB
38 alacrima, achalasia, and mental retardation syndrome 31.9 SPR SATB2 GRIA3 GNB1 GJC2 CAMK2B
39 visual epilepsy 31.7 WDR73 WDR45 GNB1 ATP1A3
40 neurodegeneration with brain iron accumulation 2a 31.5 WDR45 PANK2 C19orf12
41 early-onset parkinson's disease 31.5 TH PANK2 GCH1 C19orf12
42 hyperphenylalaninemia 31.5 TH SPR GCH1
43 basal ganglia disease 31.4 TOR1A PANK2 GCH1
44 neuroaxonal dystrophy 31.4 WDR45 PANK2 C19orf12
45 west syndrome 31.3 WDR45 TH GRIA3 GNB1
46 tetrahydrobiopterin deficiency 31.1 TH SPR GCH1
47 hereditary lymphedema ii 31.0 TOR1A GJC2 GCH1
48 alcohol-related neurodevelopmental disorder 30.7 WDR45 C19orf12
49 dystonia 16 12.8
50 dystonia, focal, task-specific 12.8

Graphical network of the top 20 diseases related to Dystonia:



Diseases related to Dystonia

Symptoms & Phenotypes for Dystonia

UMLS symptoms related to Dystonia:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.74 CAMK2B
2 Decreased viability GR00221-A-1 9.74 CAMK2B
3 Decreased viability GR00221-A-4 9.74 PANK2
4 Decreased viability GR00249-S 9.74 ATP1A3 EIF2B5 GRIA3 SATB2
5 Decreased viability GR00301-A 9.74 CAMK2B PANK2
6 Decreased viability GR00342-S-2 9.74 CASK
7 Decreased viability GR00381-A-1 9.74 CSTB EIF2B5 GCH1 SPR WDR45
8 Decreased viability GR00386-A-1 9.74 ANO3 ATP1A3 CASK CEP104 CSTB EIF2B5
9 Decreased viability GR00402-S-2 9.74 ANO3 EIF2B5 KMT2B

MGI Mouse Phenotypes related to Dystonia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ATP1A3 CAMK2B CASK CSTB EIF2B5 GJC2
2 growth/size/body region MP:0005378 9.97 ATP1A3 CAMK2B CASK CSTB EIF2B5 GNB1
3 mortality/aging MP:0010768 9.8 ATP1A3 CAMK2B CASK EIF2B5 GCH1 GJC2
4 nervous system MP:0003631 9.5 ATP1A3 CAMK2B CASK CSTB EIF2B5 GCH1

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
3
Amantadine Approved Phase 4 768-94-5 2130
4
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 5195 26757
5
Rasagiline Approved Phase 4 136236-51-6 3052776
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Levodopa Approved Phase 4 59-92-7 6047
8
Carbidopa Approved Phase 4 28860-95-9 34359
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Remifentanil Approved Phase 4 132875-61-7 60815
12
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14 incobotulinumtoxinA Phase 4
15 rimabotulinumtoxinB Phase 4
16 Antihypertensive Agents Phase 4
17 Adrenergic Antagonists Phase 4
18 Vasodilator Agents Phase 4
19 Gastrointestinal Agents Phase 4
20 Dopamine Antagonists Phase 4
21 Serotonin Uptake Inhibitors Phase 4
22 Psychotropic Drugs Phase 4
23 Antiemetics Phase 4
24 Antipsychotic Agents Phase 4
25 Anti-Infective Agents Phase 4
26 Antiviral Agents Phase 4
27 Protective Agents Phase 4
28 Antidepressive Agents Phase 4
29 Neuroprotective Agents Phase 4
30 Monoamine Oxidase Inhibitors Phase 4
31 Omega 3 Fatty Acid Phase 4
32 Adrenergic Agents Phase 4
33 Antiparkinson Agents Phase 4
34 Dopamine Agents Phase 4
35 Carbidopa, levodopa drug combination Phase 4
36 Analgesics, Non-Narcotic Phase 4
37 Analgesics Phase 4
38 Anesthetics, General Phase 4
39 Anesthetics, Intravenous Phase 4
40 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
41 Adrenergic alpha-Agonists Phase 4
42 Hypnotics and Sedatives Phase 4
43 Adrenergic Agonists Phase 4
44 Dopamine agonists Phase 4
45 Narcotics Phase 4
46 Analgesics, Opioid Phase 4
47 Immunologic Factors Phase 4
48 Adjuvants, Immunologic Phase 4
49 abobotulinumtoxinA Phase 4
50 Cholinergic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 388)
# Name Status NCT ID Phase Drugs
1 Randomisierte, Doppelblinde Langzeitstudie Zur Klinischen Wirksamkeit Der Bilateralen Globus Pallidus Internus-Stimulation Bei Idiopathischer Generalisierter Oder Segmentaler Dystonie Unknown status NCT00142259 Phase 4
2 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
3 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
4 A Study of the Utility of Botulinum Toxin Type A for Pain in Advanced Parkinson's Disease Double Blind Placebo Control Crossover Pilot Study Unknown status NCT02472210 Phase 4 Botulinum Toxin
5 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
6 Phase III Study of Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
7 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
8 Comparison of Cognitive Functions of Schizophrenic Patients Treated With Sertindole Versus Risperidone Unknown status NCT00480844 Phase 4 Sertindole;Risperidone
9 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
10 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
11 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
12 A Placebo Controlled, Cross-over, Double Blind, Randomized, Clinical Trial to Compare the Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
13 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
14 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
15 An Open Label Safety and Immunogenicity Study of MYOBLOC (Neurobloc; Botulinum Toxin Type B) Injectable Solution in Patients With Cervical Dystonia Completed NCT00702754 Phase 4
16 A Double Blind, Randomized, Multi-center, Cross-over Study to Demonstrate the Non-inferiority of Dysport® in Comparison With Botox®, Assuming a Bioequivalence Ratio of 2.5:1 Units, in the Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
17 Prospective, Single-arm, Multicenter Trial to Investigate the Efficacy and Safety of NT 201 and the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Patients With Cervical Dystonia Completed NCT00541905 Phase 4 NT 201
18 An Open-Label, Non-Inferiority Study Evaluating the Efficacy and Safety of Two Injection Schedules of Xeomin® (incobotulinumtoxinA) [Short Flex Versus Long Flex] in Subjects With Cervical Dystonia With < 10 Weeks of Benefit From OnabotulinumtoxinA Treatment Completed NCT01486264 Phase 4
19 A Randomized Controlled Trial Study of Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4 Risperidone and Olanzapine
20 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
21 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
22 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
23 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
24 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
25 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon: A Prospective Randomized Clinical Trial Injury to Reduce Sympathetic Storm Phenomenon: A Prospective Randomized Clinical Trial Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
26 A Randomized Controlled Trial on Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy Completed NCT00432055 Phase 4 Botulinum toxin type A (Botox);placebo (saline)
27 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
28 Adding Orally Disintegrating Selegiline (Zelapar) to Patients Taking Dopamine Agonists and Experiencing Complications Completed NCT00443872 Phase 4 orally disintegrating selegiline (Zelapar)
29 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm: a Randomized, Triple-blind, Placebo-controlled, Cross-over Clinical Trial Completed NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
30 A Double-Blind, Randomised, Parallel-Group Comparison of Ethyl-Eicosapentaenoic Acid (Ethyl-EPA) Versus Placebo as Add-on Medication in Patients With Established Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
31 Effects of Rasagiline on Sleep Disturbances in PD: A Single Center, Randomized, Double-blind, Placebo run-in, Polysomnographic Clinical Phase IV Trial Completed NCT01442610 Phase 4 Rasagiline;Placebo
32 Liquid Risperidone in the Treatment of Acute Agitation in Psychiatrically Hospitalized Children Completed NCT00790075 Phase 4 risperidone
33 Effects of Anesthesia Drugs on Neuronal Activity in the Basal Ganglia and Thalamus During Deep Brain Stimulation Electrode Implantation Surgery Recruiting NCT03283150 Phase 4 Remifentanil;Propofol;Dexmedetomidine
34 Treatment in Advanced Parkinson's Disease: Continuous Intrajejunal Levodopa INfusion VErsus Deep Brain STimulation Recruiting NCT02480803 Phase 4 Continuous intrajejunal infusion of levodopa-carbidopa
35 Botulinum Toxin Pyloroplasty to Reduce Postoperative Nausea and Vomiting After Sleeve Gastrectomy Enrolling by invitation NCT03701919 Phase 4 Botulinum toxin pyloroplasty;Normal saline pyloric injection
36 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
37 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
38 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
39 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
40 Foot Dystonia Treatment by Botulinum Toxin Injections in Parkinson Disease : Efficiency of Injections Made in Extrinsic Muscle (Flexor Digitorum Longus Muscle) Compared to Intrinsic Muscle (Flexor Digitorum Brevis or Quadratus Plantae Muscles) Unknown status NCT00909883 Phase 3 Botulinum Toxin: Xeomin;Placebo
41 Comparison of Efficacy of 250 Units Versus 500 Units of Botulinum Toxin in the Treatment of Refractory Vaginismus Unknown status NCT00638066 Phase 3 botulinum toxin;botulinum toxin A
42 A 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
43 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
44 Open Multicentre Study to Demonstrate the Efficacy and Safety of Botulinum Toxin A (500 Units Dysport®) in the Treatment of Heterogeneous Forms of Cervical Dystonia Completed NCT00447772 Phase 3
45 A Phase III Multicentre, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Dysport® for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3 Placebo
46 A 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
47 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
48 Phase II/III Study of Deep Brain Stimulation in Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
49 Prospective,Randomised, Double-blind, Multicenter Study to Assess the Efficacy and Safety of Bilateral Globus Pallidus Internus - in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
50 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo

Search NIH Clinical Center for Dystonia

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


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

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

Publications for Dystonia

Articles related to Dystonia:

(show top 50) (show all 14268)
# Title Authors PMID Year
1
Is deep brain stimulation (DBS) a safe and effective treatment for adults with dystonia? - A Cochrane Review summary with commentary. 61 42
31868700 2019
2
Parkinsonism in diseases predominantly presenting with dystonia. 42 61
31779818 2019
3
Clarifying Misleading Lumps and Sinuses in the Newborn. 42
32482690 2020
4
Injury of the dentatorubrothalamic tract in patients with post-traumatic tremor following mild traumatic brain injury: a case-control study. 61
32394963 2020
5
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2. 61
32454213 2020
6
Human brain connectivity: Clinical applications for clinical neurophysiology. 61
32417703 2020
7
The efficacy of single-photon emission computed tomography in identifying dystonic muscles in cervical dystonia. 61
32404643 2020
8
Deep brain stimulation in dystonia: State of art and future directions. 61
32344043 2020
9
Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia. 61
32243914 2020
10
Is Botulinum Toxin Type A Efficacious, Safe, and Tolerable in Cervical Dystonia?: A Cochrane Review Summary With Commentary. 61
32251106 2020
11
Distribution of temporomandibular disorders among sleep bruxers and non-bruxers-A polysomnographic study. 61
32119142 2020
12
Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation. 61
32387964 2020
13
Mental health outcomes in children with acquired dystonia after basal ganglia stroke and associations with cognitive and motor outcomes. 61
31996083 2020
14
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. 61
32339621 2020
15
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. 61
32196822 2020
16
Models of dystonia: an update. 61
32289333 2020
17
Deep brain stimulation in pediatric dystonia: a systematic review. 61
30397842 2020
18
Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports. 61
32346475 2020
19
Huntington's disease as an unexpected cause of deafness with dystonia and chorea. 61
32534373 2020
20
Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism. 61
32533168 2020
21
Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series. 61
32503138 2020
22
Subthalamic Nucleus Deep Brain Stimulation in Primary Meige Syndrome: A 1-Year Follow-Up Study. 61
32476223 2020
23
Neuropsychiatric profile of patients with craniocervical dystonia: A case-control study. 61
32203707 2020
24
Predictive factors of outcome in cervical dystonia following deep brain stimulation: an individual patient data meta-analysis. 61
32140866 2020
25
Botulinum neurotoxin injections for muscle-based (dystonia and spasticity) and non-muscle-based (neuropathic pain) pain disorders: a meta-analytic study. 61
32146504 2020
26
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations. 61
32494755 2020
27
Clinical validation of the self-reported Glasgow Antipsychotic Side-effect Scale using the clinician-rated UKU side-effect scale as gold standard reference. 61
32500804 2020
28
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. 61
32096284 2020
29
Reduced vision-related quality of life in people living with dystonia. 61
30545271 2020
30
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation. 61
32546208 2020
31
Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia. 61
32516804 2020
32
Natural Course of Myoclonus-Dystonia in Adulthood: Stable Motor Signs But Increased Psychiatry. 61
32212347 2020
33
Successful splint therapy for embouchure dystonia in a trumpet player. 61
32540126 2020
34
Home Intranasal Dexmedetomidine for Refractory Dystonia in Pediatric Palliative Care. 61
32145338 2020
35
The spectrum of dystonia severity before status dystonicus. 61
31853964 2020
36
Risperidone-Induced Acute Laryngeal Dystonia: A Case Report. 61
32506071 2020
37
Oromandibular dystonia: a diagnosis not to miss. 61
32143935 2020
38
The Effect of Escitalopram on Central Serotonergic and Dopaminergic Systems in Patients with Cervical Dystonia, and Its Relationship with Clinical Treatment Effects: A Double-Blind Placebo-Controlled Trial. 61
32521736 2020
39
Mapping the insula with stereo-electroencephalography: The emergence of semiology in insula lobe seizures. 61
32542728 2020
40
The role of the inferior parietal lobule in writer's cramp. 61
32428227 2020
41
Topiramate-Associated Movement Disorder: Case Series and Literature Review. 61
32541330 2020
42
The TANDEM investigation: efficacy and tolerability of levodopa-carbidopa intestinal gel in (LCIG) advanced Parkinson's disease patients. 61
32212015 2020
43
Trends in safety and cost of deep brain stimulation for treatment of movement disorders in the United States: 2002-2014. 61
32476485 2020
44
Evoked Potentials During Peripheral Stimulation Confirm Electrode Location in Thalamic Subnuclei in Children With Secondary Dystonia. 61
32567481 2020
45
Clinical Efficacy of Bilateral Deep Brain Stimulation Does Not Change After Implantable Pulse Generator Replacement but the Impedances Do: A Prospective Study. 61
31323173 2020
46
Recent genetic advances in early-onset dystonia. 61
32520805 2020
47
Non-invasive brain stimulation and kinesiotherapy for treatment of focal dystonia: Instrumental analysis of three cases. 61
32284289 2020
48
Altered sensory system activity and connectivity patterns in adductor spasmodic dysphonia. 61
32576918 2020
49
Long-Term Neuropsychiatric Sequelae in a Survivor of Cyanide Toxicity Patient With Arterialization. 61
32509487 2020
50
Pallidal Activity in Cervical Dystonia with and Without Head Tremor. 61
32095996 2020

Variations for Dystonia

ClinVar genetic disease variations for Dystonia:

6 (show top 50) (show all 399) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TH NM_000360.4(TH):c.364C>T (p.Arg122Ter)SNV Pathogenic 449110 rs771610752 11:2189844-2189844 11:2168614-2168614
2 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)SNV Pathogenic 522269 rs1553547838 2:200193432-200193432 2:199328709-199328709
3 TH NM_199292.2(TH):c.-70G>ASNV Pathogenic 526213 rs1372180906 11:2193086-2193086 11:2171856-2171856
4 GCH1 NM_000161.3(GCH1):c.126dup (p.Glu43fs)duplication Pathogenic 560371 rs1566687487 14:55369255-55369256 14:54902537-54902538
5 GJC2 NM_020435.4(GJC2):c.107del (p.Ile36fs)deletion Pathogenic 625200 1:228345566-228345566 1:228157865-228157865
6 GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)SNV Pathogenic 625211 X:122613916-122613916 X:123480065-123480065
7 SPR NM_003124.5(SPR):c.305-2A>GSNV Pathogenic 625209 2:73115441-73115441 2:72888312-72888312
8 RHOBTB2 NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln)SNV Pathogenic 545418 rs1554504684 8:22865224-22865224 8:23007711-23007711
9 EIF2B5 NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)SNV Pathogenic 598970 rs113994063 3:183858305-183858305 3:184140517-184140517
10 TH NM_000360.4(TH):c.448C>T (p.Gln150Ter)SNV Pathogenic 691995 11:2189760-2189760 11:2168530-2168530
11 CEP104 NM_014704.4(CEP104):c.89del (p.Thr30fs)deletion Pathogenic 812756 1:3768883-3768883 1:3852319-3852319
12 WDR73 NM_032856.5(WDR73):c.681T>A (p.Cys227Ter)SNV Pathogenic 812996 15:85188904-85188904 15:84645673-84645673
13 KMT2B NM_014727.3(KMT2B):c.3024_3025AG[1] (p.Glu1009fs)short repeat Pathogenic 813002 19:36214370-36214371 19:35723468-35723469
14 KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs)deletion Pathogenic 813003 19:36214713-36214719 19:35723812-35723818
15 WDR45 NM_001029896.2(WDR45):c.69_75del (p.Cys23fs)deletion Pathogenic 813007 X:48935551-48935557 X:49077892-49077898
16 subset of 35 genes: KMT2B deletion Pathogenic 812929 19:35553425-36264299
17 STS deletion Pathogenic 813270 X:6453783-8133115
18 SPR NC_000002.12:g.(?_72887413)_(72891557_?)deldeletion Pathogenic 831031 2:73114542-73118686
19 SPR NM_003124.5(SPR):c.615dup (p.Gln206fs)duplication Pathogenic 842660 2:73118494-73118495 2:72891365-72891366
20 TH NM_000360.4(TH):c.991G>T (p.Glu331Ter)SNV Pathogenic 840013 11:2187766-2187766 11:2166536-2166536
21 PANK2 NM_153638.3(PANK2):c.1441C>T (p.Arg481Ter)SNV Pathogenic 4557 rs137852968 20:3897602-3897602 20:3916955-3916955
22 CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter)SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297
23 TH NM_000360.4(TH):c.605G>A (p.Arg202His)SNV Pathogenic 12327 rs80338892 11:2189135-2189135 11:2167905-2167905
24 SPR NM_003124.5(SPR):c.448A>G (p.Arg150Gly)SNV Pathogenic 12941 rs104893665 2:73115586-73115586 2:72888457-72888457
25 SPR NM_003124.5(SPR):c.751A>T (p.Lys251Ter)SNV Pathogenic 12944 rs121917747 2:73118631-73118631 2:72891502-72891502
26 ATP1A3 NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)SNV Pathogenic 37107 rs80356537 19:42474557-42474557 19:41970405-41970405
27 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
28 MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg)SNV Pathogenic 242881 rs1114167290 15:52632432-52632432 15:52340235-52340235
29 C19orf12 NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg)SNV Pathogenic/Likely pathogenic 31157 rs515726205 19:30193873-30193873 19:29702966-29702966
30 CASK NM_003688.3(CASK):c.2506-2A>GSNV Pathogenic/Likely pathogenic 265316 rs398122845 X:41383289-41383289 X:41524036-41524036
31 TH NM_000360.4(TH):c.614T>C (p.Leu205Pro)SNV Pathogenic/Likely pathogenic 12325 rs121917763 11:2189126-2189126 11:2167896-2167896
32 TOR1A NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del)short repeat Pathogenic/Likely pathogenic 5180 rs80358233 9:132576341-132576343 9:129814062-129814064
33 ANO3 NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys)SNV Pathogenic/Likely pathogenic 641954 11:26619992-26619992 11:26598445-26598445
34 TH NM_000360.4(TH):c.1035_1045del (p.Gln346fs)deletion Pathogenic/Likely pathogenic 639906 11:2187712-2187722 11:2166482-2166492
35 CAMK2B NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)SNV Pathogenic/Likely pathogenic 430922 rs1554389088 7:44283125-44283125 7:44243526-44243526
36 TH NM_000360.3(TH):c.-71C>TSNV Likely pathogenic 558656 rs549435434 11:2193087-2193087 11:2171857-2171857
37 TH NM_000360.4(TH):c.644+1G>ASNV Likely pathogenic 557031 rs1266265578 11:2189095-2189095 11:2167865-2167865
38 MECP2 NM_001110792.2(MECP2):c.148_152del (p.Glu50fs)deletion Likely pathogenic 813009 X:153297919-153297923 X:154032468-154032472
39 CASK NC_000023.11:g.41506506_41542250deldeletion Likely pathogenic 812931 X:41365759-41401503
40 TH NM_000360.4(TH):c.1141C>A (p.Gln381Lys)SNV Likely pathogenic 12324 rs121917762 11:2186957-2186957 11:2165727-2165727
41 TH NC_000011.10:g.(?_2166470)_(2168675_?)deldeletion Likely pathogenic 831834 11:2187700-2189905
42 THAP1 NM_018105.3(THAP1):c.19G>A (p.Ala7Thr)SNV Likely pathogenic 812991 8:42698219-42698219 8:42843076-42843076
43 GNB1 NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr)SNV Likely pathogenic 812755 1:1735936-1735936 1:1804497-1804497
44 TH NM_000360.4(TH):c.692C>G (p.Thr231Ser)SNV Likely pathogenic 691996 11:2188668-2188668 11:2167438-2167438
45 PCDH12 NM_016580.3(PCDH12):c.2008G>T (p.Glu670Ter)SNV Likely pathogenic 619128 rs531630376 5:141335409-141335409 5:141955844-141955844
46 TH NM_000360.4(TH):c.645-2A>GSNV Likely pathogenic 648965 11:2188717-2188717 11:2167487-2167487
47 NPC1 NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)SNV Likely pathogenic 374166 rs113371321 18:21114441-21114441 18:23534477-23534477
48 NPC1 NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe)SNV Likely pathogenic 374167 rs1057518942 18:21124388-21124388 18:23544424-23544424
49 DRD2 NM_000795.4(DRD2):c.811-83G>TSNV drug response 375655 rs1076560 11:113283688-113283688 11:113412966-113412966
50 TH NM_000360.4(TH):c.288G>C (p.Leu96=)SNV Conflicting interpretations of pathogenicity 374421 rs151082354 11:2190904-2190904 11:2169674-2169674

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 11.89 TOR1A TH GRIA3 CASK CAMK2B
2
Show member pathways
11.4 TH GRIA3 CAMK2B
3
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 10 WDR73 WDR45 TOR1A TH SPR PANK2
2 cytosol GO:0005829 9.44 WDR73 WDR45 TOR1A TH SPR PANK2
3 synapse GO:0045202 9.43 TOR1A GRIA3 GNB1 CASK CAMK2B ATP1A3

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

# Name GO ID Score Top Affiliating Genes
1 nitric oxide biosynthetic process GO:0006809 9.26 SPR GCH1
2 cofactor metabolic process GO:0051186 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
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