MCID: DYS154
MIFTS: 65

Dystonia malady

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

Aliases & Classifications for Dystonia

Aliases & Descriptions for Dystonia:

Name: Dystonia 12 23 24 41 42 14
Dystonic Disease 12 69
Dystonias 51 29
Dystonia Disorders 69

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 oromandibular dystonia, and has symptoms including back pain, headache and muscle cramp. An important gene associated with Dystonia is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Amphetamine addiction and Alpha-synuclein signaling. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and testes, and related phenotypes are behavior/neurological and nervous system

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

GeneReviews: NBK1155

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 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 395)
id Related Disease Score Top Affiliating Genes
1 cervical dystonia 33.7 ATP1A3 GCH1 SGCE TOR1A
2 oromandibular dystonia 33.6 GCH1 GNAL TOR1A
3 focal hand dystonia 33.3 GCH1 SGCE THAP1 TOR1A
4 segmental dystonia 33.1 DRD2 PRKRA THAP1 TOR1A
5 hemidystonia 31.6 GCH1 TAF1 THAP1 TOR1A
6 generalized dystonia 12.3
7 early-onset generalized dystonia 12.3
8 focal dystonia 12.3
9 dystonia 6, torsion 12.2
10 dystonia 16 12.2
11 dystonia-parkinsonism, x-linked 12.2
12 hypermanganesemia with dystonia, polycythemia, and cirrhosis 12.2
13 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 12.2
14 dystonia 2, torsion, autosomal recessive 12.2
15 dystonia, dopa-responsive, with or without hyperphenylalaninemia 12.1
16 dystonia 23 12.1
17 dystonia 24 12.1
18 dystonia 25 12.1
19 dystonia, juvenile-onset 12.1
20 parkinsonism-dystonia, infantile 12.1
21 dystonia 27 12.1
22 dystonia 4, torsion, autosomal dominant 12.1
23 leber hereditary optic neuropathy with dystonia 12.1
24 adolescent-onset dystonia of mixed type 12.0
25 dystonia 21 12.0
26 deafness, dystonia, and cerebral hypomyelination 12.0
27 dystonia 26, myoclonic 12.0
28 leukoencephalopathy with dystonia and motor neuropathy 12.0
29 dystonia 9 12.0
30 early-onset generalized limb-onset dystonia 12.0
31 multifocal dystonia 11.9
32 cranio-facial dystonia 11.9
33 hypermanganesemia with dystonia 2 11.9
34 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 11.9
35 x-linked dystonia-parkinsonism/lubag 11.9
36 dopa-responsive dystonia; segawa syndrome ad 11.9
37 spasmodic dystonia 11.9
38 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 11.9
39 dystonia-1, torsion 11.9
40 meige syndrome 11.9
41 dystonia 13, torsion, autosomal dominant 11.9
42 dystonia-12 11.8
43 mohr-tranebjaerg syndrome 11.8
44 dystonia-11, myoclonic 11.8
45 dystonia 2 11.8
46 segawa syndrome, recessive 11.8
47 dystonia 17, torsion, autosomal recessive 11.8
48 dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 11.8
49 maternally-inherited mitochondrial dystonia 11.7
50 dystonia-aphonia syndrome 11.7

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

MGI Mouse Phenotypes related to Dystonia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ATP1A3 DRD2 GNAL PNKD PRKRA SGCE
2 nervous system MP:0003631 9.32 DRD2 HPCA PNKD PRKRA SGCE SLC6A3

Drugs & Therapeutics for Dystonia

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

(show top 50) (show all 149)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4,Phase 3 59-92-7 6047
3
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
4
Ibuprofen Approved Phase 4 15687-27-1 3672
5
Propranolol Approved, Investigational Phase 4 525-66-6 4946
6
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
7
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
8
Carbidopa Approved Phase 4 28860-95-9 34359 38101
9
Amantadine Approved Phase 4 768-94-5 2130
10
Menthol Approved Phase 4 2216-51-5 16666
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
15 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
17 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2
18 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
20 Anesthetics Phase 4,Phase 1,Phase 2
21 Dihydroxyphenylalanine Phase 4,Phase 3,Early Phase 1
22 Anesthetics, General Phase 4
23 Anesthetics, Intravenous Phase 4
24 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
26 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
27 incobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
28 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
29 Protective Agents Phase 4,Phase 3,Phase 2
30 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
31 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Phase 2
33 Antirheumatic Agents Phase 4,Phase 1,Phase 2
34 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
35 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
36 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2
37 Carbidopa, levodopa drug combination Phase 4
38 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
39 Dopamine agonists Phase 4,Phase 3
40
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
41 Adjuvants, Anesthesia Phase 4
42 Adjuvants, Immunologic Phase 4
43 N 0437 Phase 4,Phase 3
44 Serotonin Agents Phase 4,Phase 3,Phase 2
45 Adrenergic Agents Phase 4,Phase 3,Phase 2
46 Serotonin Antagonists Phase 4,Phase 2
47 Narcotics Phase 4
48 Serotonin Uptake Inhibitors Phase 4,Phase 3
49 Adrenergic Antagonists Phase 4
50 Sodium Channel Blockers Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 271)
id Name Status NCT ID Phase
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
3 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Unknown status NCT01860196 Phase 4
4 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4
5 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4
6 Botox for Cervical Dystonia Following EMG Mapping Completed NCT00773253 Phase 4
7 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
8 A Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4
9 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
10 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4
11 Daily Dystonia Practice - A Trial to Investigate NT 201, the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Cervical Dystonia Completed NCT00541905 Phase 4
12 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958 Phase 4
13 Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
14 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4
15 Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4
16 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4
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
20 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
21 Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia Completed NCT00114595 Phase 4
22 Study of Arm and Putter Movement in Golfers With Golfer's Cramp Completed NCT02032758 Phase 4
23 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4
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
28 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
29 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4
30 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
31 Ketamine Versus Haloperidol for Severe Agitation Outside the Hospital Withdrawn NCT02103881 Phase 4
32 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
33 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
34 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
35 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3
36 Deep Brain Stimulation in Treating Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
37 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3
38 Double-Blind, Multicenter Study to Assess the Efficacy of Bilateral Pallidal Stimulation in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
39 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3
40 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
41 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3
42 Randomized, Placebo-Controlled Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3
43 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3
44 Open-label Extension Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3
45 A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3
46 Randomized Evaluation of the 24-Hour Coverage: Efficacy of Rotigotine Completed NCT00474058 Phase 3
47 A Placebo- and Ropinirole-Controlled Study for SPM 962 in Advanced Parkinson's Disease Patients Completed NCT01628926 Phase 3
48 Efficacy and Safety of Olanzapine in the Extended Treatment for Manic or Mixed Episode of Bipolar I Disorder Completed NCT00266630 Phase 3
49 Trial to Assess Parkinson's Disease (PD) Symptom Control to Four Doses of Rotigotine in a Transdermal Patch Completed NCT00522379 Phase 3
50 Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity Recruiting NCT02326818 Phase 3

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, Globus Pallidus, Testes, Cortex, Subthalamic Nucleus, Cerebellum, Tongue

Publications for Dystonia

Articles related to Dystonia:

(show top 50) (show all 2545)
id Title Authors Year
1
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression. ( 28486698 )
2017
2
The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism. ( 28505262 )
2017
3
KMT2B rare missense variants in generalized dystonia. ( 28520167 )
2017
4
Bilateral platysma dystonia. ( 28484541 )
2017
5
Pregnancy and Delivery in a Generalized Dystonia Patient Treated with Internal Globus Pallidal Deep Brain Stimulation: a Case Report. ( 27914146 )
2017
6
The occurrence of lateral shift in cervical dystonia. ( 28054172 )
2017
7
Rechargeable or Nonrechargeable Deep Brain Stimulation in Dystonia: A Cost Analysis. ( 28083888 )
2017
8
Dystonia treatment: Patterns of medication use in an international cohort. ( 28077492 )
2017
9
Alcohol-Sensitive Generalized Dystonia. ( 27941525 )
2017
10
Stable cognitive functioning with improved perceptual reasoning in children with dyskinetic cerebral palsy and other secondary dystonias after deep brain stimulation. ( 27836441 )
2017
11
DYT2 screening in early-onset isolated dystonia. ( 27771228 )
2017
12
Reply: Contributions of visual and motor signals in cervical dystonia. ( 27993889 )
2017
13
TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation. ( 28431625 )
2017
14
A Case of Myoclonus-Dystonia Responding to Low-frequency Pallidal Stimulation. ( 28503362 )
2017
15
Improvement of Table Tennis Dystonia by Stereotactic Ventro-oral Thalamotomy: A Case Report. ( 28063895 )
2017
16
Acute Dystonia Versus Neuroleptic Malignant Syndrome Without Fever in an Eight-Year-Old Child. ( 28045840 )
2017
17
Fatal Status Dystonicus in Tardive Dystonia Due to Depletion of Deep Brain Stimulation's Pulse Generator. ( 28017319 )
2017
18
Modulation of the muscle activity during sleep in cervical dystonia. ( 28525628 )
2017
19
Microcephaly with generalized dystonia: Exception to the rule. ( 28488652 )
2017
20
Musician's Focal Dystonia. ( 28510682 )
2017
21
Cerebellum: An explanation for dystonia? ( 28515949 )
2017
22
Contributions of visual and motor signals in cervical dystonia. ( 27993890 )
2017
23
Chorea and Orofaciolingual Dystonia in a 40 Year Old Male. ( 28527175 )
2017
24
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
25
Ghrelin improves dystonia and tremor in patients with Rett syndrome: A pilot study. ( 28477699 )
2017
26
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. ( 28059473 )
2017
27
Update on the Genetics of Dystonia. ( 28283962 )
2017
28
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features. ( 28500446 )
2017
29
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. ( 28487785 )
2017
30
Ten-year results of pallidal stimulation for cricopharyngeal dystonia with spasmodic dysphonia. ( 27927934 )
2017
31
Sensory tricks in primary blepharospasm and idiopathic cervical dystonia. ( 28488615 )
2017
32
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
33
The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. ( 28081261 )
2017
34
Deep Brain Stimulation for Childhood Dystonia: Is "where" as important as in "whom"? ( 28010919 )
2017
35
Erratum to: Correlation of electrode position and clinical outcomes in Globus pallidus stimulation for dystonia. ( 28488071 )
2017
36
Alterations of resting-state fMRI measurements in individuals with cervical dystonia. ( 28504361 )
2017
37
Sensory tricks in dystonia: Phenomenology and mechanisms. ( 28488616 )
2017
38
Bupropion-Induced Acute Dystonia with Dose Escalation and Use of Naranjo Nomogram. ( 28507829 )
2017
39
Surgical intervention for oromandibular dystonia-related limited mouth opening: Long-term follow-up. ( 27908709 )
2017
40
A systematic review of scales to measure dystonia and choreoathetosis in children with dyskinetic cerebral palsy. ( 28485494 )
2017
41
Endophenotyping in idiopathic adult onset cervical dystonia. ( 28511126 )
2017
42
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. ( 28132689 )
2017
43
Poster 296 AbobotulinumtoxinA Injection Patterns in Patients with Cervical Dystonia from the ANCHOR-CD Registry Study. ( 27673052 )
2016
44
Poster 290 Efficacy and Safety of a 2 mL Dilution of AbobotulinumtoxinA Compared with Placebo in Adult Patients with Cervical Dystonia. ( 27673045 )
2016
45
Adult onset primary focal dystonia of the foot: an orthopaedic intervention. ( 27030449 )
2016
46
Psychiatric co-morbidity is highly prevalent in idiopathic cervical dystonia and significantly influences health-related quality of life: Results of a controlled study. ( 27321988 )
2016
47
Overuse Cervical Dystonia: A Case Report and Literature Review. ( 27708983 )
2016
48
Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells. ( 26769797 )
2016
49
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. ( 26990861 )
2016
50
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. ( 28139822 )
2016

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

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
Show member pathways
11.4 DRD2 SLC6A3 TH
2 10.3 SLC6A3 TH TOR1A
3 10.16 GCH1 SPR

GO Terms for Dystonia

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

id Name GO ID Score Top Affiliating Genes
1 perikaryon GO:0043204 9.43 DRD2 HPCA TH
2 neuronal cell body membrane GO:0032809 9.32 ATP1A3 HPCA
3 dendrite membrane GO:0032590 9.16 HPCA SGCE
4 axon GO:0030424 9.02 ATP1A3 DRD2 HPCA SLC6A3 TH
5 dendritic spine head GO:0044327 8.96 ATP1A3 HPCA

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.87 ATP1A3 DRD2 SLC6A3 TH
2 response to ethanol GO:0045471 9.73 DRD2 SLC6A3 TH
3 locomotory behavior GO:0007626 9.67 DRD2 SLC6A3 TH
4 response to iron ion GO:0010039 9.55 DRD2 SLC6A3
5 synaptic transmission, dopaminergic GO:0001963 9.54 DRD2 TH
6 zinc II ion transmembrane transport GO:0071577 9.52 SLC30A10 SLC39A14
7 neurotransmitter biosynthetic process GO:0042136 9.51 SLC6A3 TH
8 prepulse inhibition GO:0060134 9.48 DRD2 SLC6A3
9 neuromuscular process controlling posture GO:0050884 9.46 GCH1 PNKD
10 nitric oxide biosynthetic process GO:0006809 9.43 GCH1 SPR
11 regulation of dopamine metabolic process GO:0042053 9.4 PNKD SLC6A3
12 adenohypophysis development GO:0021984 9.37 DRD2 SLC6A3
13 tetrahydrobiopterin biosynthetic process GO:0006729 9.32 GCH1 SPR
14 chaperone-mediated protein transport GO:0072321 9.26 TIMM8A TOR1A
15 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.16 DRD2 TOR1A
16 response to nicotine GO:0035094 9.13 DRD2 SLC6A3 TH
17 dopamine biosynthetic process GO:0042416 8.8 GCH1 SLC6A3 TH

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 8.96 SLC30A10 SLC39A14
2 dopamine binding GO:0035240 8.8 DRD2 SLC6A3 TH

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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