MCID: DYS154
MIFTS: 61

Dystonia

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

Aliases & Classifications for Dystonia

MalaCards integrated aliases for Dystonia:

Name: Dystonia 12 24 29 41 42 14
Dystonic Disease 12 69
Dystonia Disorders 69
Dystonias 51

Classifications:



External Ids:

Disease Ontology 12 DOID:543
ICD10 33 G24 G24.9
NCIt 47 C34563

Summaries for Dystonia

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

MalaCards based summary : Dystonia, also known as dystonic disease, is related to cervical dystonia and cranio-facial dystonia, and has symptoms including back pain, headache and muscle cramp. An important gene associated with Dystonia is TOR1A (Torsin Family 1 Member A), and among its related pathways/superpathways is Folate biosynthesis. The drugs Acetylcholine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and globus pallidus.

NINDS : 51 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 : 72 Dystonia is a neurological movement disorder syndrome in which sustained or repetitive muscle... more...

Related Diseases for Dystonia

Diseases in the Dystonia family:

Dystonia 9 Dystonia 21
Dystonia 16 Dystonia 27
Dystonia, Juvenile-Onset Dystonia 23
Dystonia 24 Dystonia 25
Dystonia-12 Hereditary Dystonia
Dystonia 2 Dystonia 4
Dystonia 7

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

(show top 50) (show all 414)
id Related Disease Score Top Affiliating Genes
1 cervical dystonia 34.6 GCH1 THAP1 TOR1A
2 cranio-facial dystonia 34.1 GCH1 THAP1 TOR1A
3 oromandibular dystonia 33.8 THAP1 TOR1A
4 segmental dystonia 33.6 ANO3 GNAL SGCE TAF1 THAP1 TIMM8A
5 hemidystonia 32.5 GNAL THAP1 TOR1A
6 oculogyric crisis 32.4 GCH1 GNAL TOR1A
7 hyperphenylalaninemia, bh4-deficient, b 31.2 ATP1A3 GCH1 PRKRA SGCE TAF1 TH
8 spastic paraparesis 30.4 THAP1 TOR1A TUBB4A
9 dystonia 16 12.3
10 dystonia, dopa-responsive, with or without hyperphenylalaninemia 12.3
11 early-onset generalized dystonia 12.3
12 focal dystonia 12.3
13 dystonia 6, torsion 12.2
14 dystonia-parkinsonism, x-linked 12.2
15 x-linked dystonia-parkinsonism/lubag 12.2
16 dystonia 2, torsion, autosomal recessive 12.2
17 dystonia 24 12.1
18 dystonia 23 12.1
19 dystonia 25 12.1
20 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 12.1
21 dystonia 4, torsion, autosomal dominant 12.1
22 dystonia 27 12.1
23 parkinsonism-dystonia, infantile 12.1
24 dystonia, juvenile-onset 12.1
25 adolescent-onset dystonia of mixed type 12.1
26 dystonia 21 12.0
27 dystonia 9 12.0
28 leber hereditary optic neuropathy with dystonia 12.0
29 dystonia-11, myoclonic 12.0
30 hypermanganesemia with dystonia 1 12.0
31 torsion dystonia with onset in infancy 12.0
32 dystonia-12 12.0
33 dystonia 26, myoclonic 12.0
34 leukoencephalopathy with dystonia and motor neuropathy 12.0
35 torsion dystonia 13 12.0
36 deafness, dystonia, and cerebral hypomyelination 12.0
37 focal hand dystonia 12.0
38 hypermanganesemia with dystonia 2 11.9
39 dystonia 28, childhood-onset 11.9
40 multifocal dystonia 11.9
41 torsion dystonia 2 11.9
42 torsion dystonia 4 11.9
43 torsion dystonia 17 11.9
44 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 11.9
45 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 11.9
46 early-onset generalized limb-onset dystonia 11.9
47 mohr-tranebjaerg syndrome 11.9
48 dopa-responsive dystonia; segawa syndrome ad 11.9
49 leukodystrophy and acquired microcephaly with or without dystonia 11.9
50 meige syndrome 11.9

Graphical network of the top 20 diseases related to Dystonia:



Diseases related to Dystonia

Symptoms & Phenotypes for Dystonia

UMLS symptoms related to Dystonia:


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

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 157)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 4,Phase 3 59-92-7 6047
4
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
5
Menthol Approved Phase 4 2216-51-5 16666
6
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
7
Carbidopa Approved Phase 4 28860-95-9 34359 38101
8
Amantadine Approved Phase 4 768-94-5 2130
9
Propranolol Approved, Investigational Phase 4 525-66-6 4946
10
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
11
Ibuprofen Approved Phase 4 15687-27-1 3672
12
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
15 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
16 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2
17 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2
19 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
20 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
23 Carbidopa, levodopa drug combination Phase 4
24 Dihydroxyphenylalanine Phase 4,Phase 3,Early Phase 1
25 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Protective Agents Phase 4,Phase 3,Phase 2
27 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
28 Antiemetics Phase 4,Phase 3,Phase 1,Phase 2
29 Antipsychotic Agents Phase 4,Phase 3,Phase 2
30 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
31 Dopamine Antagonists Phase 4,Phase 3,Phase 2
32 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
33 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
34 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
35
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
36 Serotonin Agents Phase 4,Phase 3,Phase 2
37 Serotonin Uptake Inhibitors Phase 4,Phase 3
38 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
40 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
41 Adrenergic Agents Phase 4,Phase 3,Phase 2
42 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
43 Anesthetics, General Phase 4,Phase 2,Phase 3
44 Anesthetics, Intravenous Phase 4,Phase 2,Phase 3
45 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Phase 2
47 Antirheumatic Agents Phase 4,Phase 1,Phase 2
48 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
49 rimabotulinumtoxinB Phase 4,Phase 2,Phase 1
50 Serotonin Antagonists Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 287)

id Name Status NCT ID Phase Drugs
1 Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia 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 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
5 Botox for Cervical Dystonia Following EMG Mapping Completed NCT00773253 Phase 4 Botulinum toxin A
6 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
7 A Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
8 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
9 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
10 Daily Dystonia Practice - A Trial to Investigate NT 201, the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Cervical Dystonia Completed NCT00541905 Phase 4 NT 201
11 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958 Phase 4
12 Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
13 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
14 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
15 Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4 Risperidone and Olanzapine
16 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
17 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
18 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
19 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
20 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
21 Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
22 Study of Arm and Putter Movement in Golfers With Golfer's Cramp Completed NCT02032758 Phase 4 Propranolol
23 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4 Fentanyl;Ibuprofen
24 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Recruiting NCT02618889 Phase 4
25 Comparison of the Efficacy of Double Monopolar Versus Interleaving Stimulation Modes for Pallidal Deep Brain Stimulation Recruiting NCT01497639 Phase 4
26 Use of Interventional MRI for Implantation of Deep Brain Stimulator Electrodes Recruiting NCT00792532 Phase 4
27 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Active, not recruiting NCT03098368 Phase 4 Rotigotine;Placebo
28 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
29 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
30 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
31 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
32 Ketamine Versus Haloperidol for Severe Agitation Outside the Hospital Withdrawn NCT02103881 Phase 4 Ketamine;Haloperidol
33 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
34 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
35 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
36 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Unknown status NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
37 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3 Botulinum type A toxin (Dysport®)
38 Deep Brain Stimulation in Treating Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
39 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3 zonegran;placebo
40 Double-Blind, Multicenter Study to Assess the Efficacy of Bilateral Pallidal Stimulation in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
41 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Dysport®;Placebo
42 Study Comparing Short Term Efficacy of Dysport® and Dysport RU® to Placebo, and to Assess Efficacy and Safety of Dysport RU® of Subjects With Cervical Dystonia Completed NCT01261611 Phase 3 Botulinum type A toxin (Dysport RU®);Botulinum type A toxin (Dysport®);Placebo
43 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3 Dysport®
44 Randomized, Placebo-Controlled Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3 Botulinum type A toxin (Dysport®);Placebo
45 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3 incobotulinumtoxinA (Xeomin) (240 Units);incobotulinumtoxinA (Xeomin) (120 Units);Placebo
46 Open-label Extension Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3 abobotulinumtoxinA (Dysport) 250-1000 units
47 A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3 Deferiprone oral solution;Placebo oral solution
48 Randomized Evaluation of the 24-Hour Coverage: Efficacy of Rotigotine Completed NCT00474058 Phase 3 Rotigotine
49 A Placebo- and Ropinirole-Controlled Study for SPM 962 in Advanced Parkinson's Disease Patients Completed NCT01628926 Phase 3 SPM 962;Ropinirole;Placebo
50 Efficacy and Safety of Olanzapine in the Extended Treatment for Manic or Mixed Episode of Bipolar I Disorder Completed NCT00266630 Phase 3 olanzapine;lithium;valproate;carbamazepine

Search NIH Clinical Center for Dystonia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: dystonia

Genetic Tests for Dystonia

Genetic tests related to Dystonia:

id Genetic test Affiliating Genes
1 Dystonia 29 24

Anatomical Context for Dystonia

MalaCards organs/tissues related to Dystonia:

39
Brain, Testes, Globus Pallidus, Cortex, Cerebellum, Subthalamic Nucleus, Spinal Cord

Publications for Dystonia

Articles related to Dystonia:

(show top 50) (show all 2615)
id Title Authors Year
1
Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease. ( 28401296 )
2017
2
Scopolamine alleviates involuntary lingual movements: tardive dyskinesia or dystonia? ( 28919765 )
2017
3
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. ( 28558098 )
2017
4
Phosphodiesterase-10A Inverse Changes in Striatopallidal and Striatoentopeduncular Pathways of a Transgenic Mouse Model of DYT1 Dystonia. ( 28115486 )
2017
5
Cervical sensorimotor control in idiopathic cervical dystonia: AA cross-sectional study. ( 28948067 )
2017
6
A child is not a small adult: Complications in deep brain stimulation in children: Surgical safety and complications of deep brain stimulation for childhood dystonia. ( 28034621 )
2017
7
Pregnancy and Delivery in a Generalized Dystonia Patient Treated with Internal Globus Pallidal Deep Brain Stimulation: a Case Report. ( 27914146 )
2017
8
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. ( 28398555 )
2017
9
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. ( 28087438 )
2017
10
Botulinum toxin for treatment of the focal dystonia. ( 28652522 )
2017
11
Functional activity of the sensorimotor cortex and cerebellum relates to cervical dystonia symptoms. ( 28594097 )
2017
12
Carbamazepine responsive generalized dystonia in Fahr's disease. ( 28416128 )
2017
13
Ixcellence NetworkAr: an international educational network to improve current practice in the management of cervical dystonia or spastic paresis by botulinum toxin injection. ( 28676144 )
2017
14
Failure of pallidal deep brain stimulation in DYT12-ATP1A3 dystonia. ( 28941827 )
2017
15
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia. ( 28566178 )
2017
16
Acute Focal Dystonia After a Single Dose of Oral Cetirizine in a 9-Year-Old Boy. ( 28169979 )
2017
17
Interoceptive sensitivity in patients with cervical dystonia. ( 28827008 )
2017
18
Cefixime-Induced Oromandibular Dystonia in an Adult: A Case Report. ( 28294072 )
2017
19
A role for cerebellum in the hereditary dystonia DYT1. ( 28198698 )
2017
20
Ghrelin improves dystonia and tremor in patients with Rett syndrome: A pilot study. ( 28477699 )
2017
21
A History of Dystonia: Ancient to Modern. ( 28920067 )
2017
22
Neuropathic Pain as Potential Source of Feed-Induced Dystonia in Children with Severe Central Nervous System Disorders. ( 28902091 )
2017
23
Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. ( 28949038 )
2017
24
Nonmotor symptoms in primary adult-onset cervical dystonia and blepharospasm. ( 28239516 )
2017
25
Evaluation of the Edrophonium Challenge Test for Cervical Dystonia. ( 28824069 )
2017
26
Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists. ( 28620630 )
2017
27
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. ( 28059473 )
2017
28
Alcohol-Sensitive Generalized Dystonia. ( 27941525 )
2017
29
Acute Dystonia Versus Neuroleptic Malignant Syndrome Without Fever in an Eight-Year-Old Child. ( 28045840 )
2017
30
Endophenotyping in idiopathic adult onset cervical dystonia. ( 28511126 )
2017
31
Dystonia. ( 28910989 )
2017
32
"Striatal Toe Sign": False-Positive "Extensor Plantar Response" in Dystonia. ( 28917954 )
2017
33
TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation. ( 28431625 )
2017
34
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation. ( 28869676 )
2017
35
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features. ( 28500446 )
2017
36
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. ( 28487785 )
2017
37
Surgical Interventions for Task-specific Dystonia (Writer's Dystonia). ( 28904473 )
2017
38
The occurrence of lateral shift in cervical dystonia. ( 28054172 )
2017
39
A Case of Myoclonus-Dystonia Responding to Low-frequency Pallidal Stimulation. ( 28503362 )
2017
40
Brain positron emission tomography with 2-(18)F-2-deoxi-D-glucose of patients with dystonia and essential tremor detects differences between these disorders. ( 28805131 )
2017
41
Functional brain neuroimaging-guided repetitive transcranial magnetic stimulation in neurodevelopmental disorders: The case of a schizencephaly-related spastic dystonia. ( 28566157 )
2017
42
Management of Oromandibular Dystonia: A Case Report and Literature Update. ( 28706744 )
2017
43
Dystonia treatment: Patterns of medication use in an international cohort. ( 28077492 )
2017
44
Sensory tricks in primary blepharospasm and idiopathic cervical dystonia. ( 28488615 )
2017
45
Contributions of visual and motor signals in cervical dystonia. ( 27993890 )
2017
46
Cervical dystonia patients display subclinical gait changes. ( 28712731 )
2017
47
Bilateral platysma dystonia. ( 28484541 )
2017
48
Spectral EMG Changes in Cervical Dystonia Patients and the Influence of Botulinum Toxin Treatment. ( 28832550 )
2017
49
Dopa-responsive Dystonia in a Child Misdiagnosed as Cerebral Palsy. ( 28904579 )
2017
50
Modulation of the muscle activity during sleep in cervical dystonia. ( 28525628 )
2017

Variations for Dystonia

ClinVar genetic disease variations for Dystonia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic rs80358233 GRCh37 Chromosome 9, 132576341: 132576343
2 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121917762 GRCh37 Chromosome 11, 2186957: 2186957
3 TH NM_199292.2(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Pathogenic/Likely pathogenic rs45471299 GRCh37 Chromosome 11, 2185569: 2185569
4 C19orf12 NM_001031726.3(C19orf12): c.424A> G (p.Lys142Glu) single nucleotide variant Pathogenic rs146170087 GRCh37 Chromosome 19, 30193654: 30193654
5 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh37 Chromosome 19, 30193873: 30193873
6 MYO5A NM_000259.3(MYO5A): c.4200C> G (p.Ser1400Arg) single nucleotide variant Pathogenic rs1114167290 GRCh37 Chromosome 15, 52632432: 52632432

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:

id Super pathways Score Top Affiliating Genes
1 10 GCH1 SPR TH

GO Terms for Dystonia

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

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.56 ATP1A3 MYO5A TH TUBB4A
2 neuronal cell body membrane GO:0032809 9.16 ATP1A3 HPCA
3 dendrite membrane GO:0032590 8.96 HPCA SGCE
4 dendritic spine head GO:0044327 8.62 ATP1A3 HPCA

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

id Name GO ID Score Top Affiliating Genes
1 zinc II ion transport GO:0006829 9.4 SLC30A10 SLC39A14
2 regulation of nitric-oxide synthase activity GO:0050999 9.37 GCH1 SPR
3 zinc II ion transmembrane transport GO:0071577 9.32 SLC30A10 SLC39A14
4 nitric oxide biosynthetic process GO:0006809 9.26 GCH1 SPR
5 dopamine biosynthetic process GO:0042416 9.16 GCH1 TH
6 tetrahydrobiopterin biosynthetic process GO:0006729 8.96 GCH1 SPR
7 chaperone-mediated protein transport GO:0072321 8.62 TIMM8A TOR1A

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

id Name GO ID Score Top Affiliating Genes
1 zinc ion transmembrane transporter activity GO:0005385 8.62 SLC30A10 SLC39A14

Sources for Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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