MCID: ISL135
MIFTS: 23

Isolated Dystonia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Dystonia

MalaCards integrated aliases for Isolated Dystonia:

Name: Isolated Dystonia 59
Pure Dystonia 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G24.1
Orphanet 59 ORPHA156159

Summaries for Isolated Dystonia

MalaCards based summary : Isolated Dystonia, also known as pure dystonia, is related to dystonia 1, torsion, autosomal dominant and spasmodic dystonia. An important gene associated with Isolated Dystonia is COL6A3 (Collagen Type VI Alpha 3 Chain). Affiliated tissues include brain, subthalamic nucleus and globus pallidus.

Related Diseases for Isolated Dystonia

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 29.5 TOR1A GCH1
2 spasmodic dystonia 29.3 TOR1A THAP1 GNAL
3 movement disease 29.2 TOR1A GCH1
4 spasmodic dysphonia 29.1 TUBB4A TOR1A THAP1
5 hereditary dystonia 29.0 TUBB4A GCH1
6 cervical dystonia 28.7 TOR1A THAP1 GNAL GCH1
7 segmental dystonia 28.6 TOR1A THAP1 GCH1
8 dystonia 26.6 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
9 dyt1 early-onset isolated dystonia 12.4
10 generalized isolated dystonia 12.2
11 dystonia 27 11.7
12 early-onset generalized limb-onset dystonia 11.5
13 dyt-tor1a 11.2
14 dyt-gnal 10.1
15 dystonia 2, torsion, autosomal recessive 10.0
16 dystonia 6, torsion 10.0
17 dyt-thap1 10.0
18 focal hand dystonia 9.9 TOR1A THAP1
19 dystonia 4, torsion, autosomal dominant 9.9
20 combined dystonia 9.9
21 parkinson disease, late-onset 9.7
22 torticollis 9.7
23 metachromatic leukodystrophy 9.7
24 ataxia and polyneuropathy, adult-onset 9.7
25 dystonia 25 9.7
26 muscular disease 9.7
27 leukodystrophy 9.7
28 mood disorder 9.7
29 muscular dystrophy 9.7
30 dyt-tubb4a 9.7
31 tremor 9.7
32 classic progressive supranuclear palsy syndrome 9.7
33 rare movement disorder 9.7
34 thiamine metabolism dysfunction syndrome 2 9.7 TOR1A GCH1
35 dystonia 24 9.5 TOR1A THAP1 ANO3
36 oromandibular dystonia 9.4 TOR1A THAP1 GCH1
37 leukodystrophy, hypomyelinating, 2 9.3 TOR1A GCH1
38 hemidystonia 9.3 TOR1A THAP1 GCH1
39 dystonia 11, myoclonic 9.3 TOR1A THAP1 GCH1
40 dystonia, dopa-responsive 9.3 TOR1A THAP1 GCH1
41 dystonia 3, torsion, x-linked 9.2 THAP1 HPCA GCH1
42 focal dystonia 9.2 TOR1A THAP1 GNAL ANO3
43 blepharospasm 9.0 TOR1A THAP1 GNAL GCH1
44 dystonia 12 8.9 TUBB4A TOR1A THAP1 GCH1

Graphical network of the top 20 diseases related to Isolated Dystonia:



Diseases related to Isolated Dystonia

Symptoms & Phenotypes for Isolated Dystonia

Drugs & Therapeutics for Isolated Dystonia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Functional Magnetic Resonance and Diffusion Tensor Imaging in the Preoperative Assessment of Dystonia Recruiting NCT02877836
2 Closed Loop Deep Brain Stimulation in Parkinson's Disease and Dystonia (Activa RC+S) Recruiting NCT03582891

Search NIH Clinical Center for Isolated Dystonia

Genetic Tests for Isolated Dystonia

Anatomical Context for Isolated Dystonia

MalaCards organs/tissues related to Isolated Dystonia:

41
Brain, Subthalamic Nucleus, Globus Pallidus, Cortex, Cerebellum

Publications for Isolated Dystonia

Articles related to Isolated Dystonia:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Meta-Regression Analysis of the Long-Term Effects of Pallidal and Subthalamic Deep Brain Stimulation for the Treatment of Isolated Dystonia. 38
31146039 2019
2
Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol. 38
31034808 2019
3
Pharmacological management of abnormal tone and movement in cerebral palsy. 38
30948360 2019
4
Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia. 38
31301343 2019
5
Deep brain stimulation in post-traumatic dystonia: A case series study. 38
31033189 2019
6
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia! 38
30991467 2019
7
Importance of the initial response to GPi deep brain stimulation in dystonia: A nine year quality of life study. 38
31060987 2019
8
Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia. 38
30849756 2019
9
Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation. 38
30536916 2019
10
Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia. 38
30838317 2019
11
Neuropathology of Dystonia. 38
30886764 2019
12
DYT-GNAL 38
30605297 2019
13
Clinical Features and Treatment in the Spectrum of Paroxysmal Dyskinesias: An Observational Study in South-West Castilla y Leon, Spain. 38
31186958 2019
14
Hip displacement in children with cerebral palsy in Scotland: a total population study. 38
30607212 2018
15
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. 38
30316041 2018
16
Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia. 38
30100364 2018
17
Predictors of alcohol responsiveness in dystonia. 38
30341158 2018
18
Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results. 38
30028274 2018
19
Dystonia. 38
30237473 2018
20
Pediatric Deep Brain Stimulation Using Awake Recording and Stimulation for Target Selection in an Inpatient Neuromodulation Monitoring Unit. 38
30018276 2018
21
Spinocerebellar ataxia type 3 presenting with writer's cramp without ataxia. 38
29164982 2018
22
Surgical treatment of dystonia. 38
29781334 2018
23
Pallidal Deep-Brain Stimulation Disrupts Pallidal Beta Oscillations and Coherence with Primary Motor Cortex in Parkinson's Disease. 38
29661966 2018
24
Cortical gamma oscillations in isolated dystonia. 38
29371063 2018
25
The prevalence of PRKRA mutations in idiopathic dystonia. 38
29279192 2018
26
Diagnosis and treatment of pediatric onset isolated dystonia. 38
29396174 2018
27
DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice. 38
29154038 2018
28
Chronic deep brain stimulation normalizes scalp EEG activity in isolated dystonia. 38
29288993 2018
29
Neuroimaging Applications in Dystonia. 38
30473192 2018
30
Inherited dystonias: clinical features and molecular pathways. 38
29325615 2018
31
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. 38
28901595 2018
32
The prevalence of adult-onset isolated dystonia in Finland 2007-2016. 38
30458031 2018
33
Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). 38
29066004 2018
34
Dystonia. 38
30482316 2018
35
The direct basal ganglia pathway is hyperfunctional in focal dystonia. 38
29087445 2017
36
Pallidal DBS for dystonia in the age of personalized medicine. 38
28964627 2017
37
Tremor in Dystonia: A Cross-sectional Study from India. 38
30868097 2017
38
Causes of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia. 38
28690015 2017
39
Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population. 38
28756192 2017
40
Screening study of TUBB4A in isolated dystonia. 38
28655586 2017
41
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. 38
28398555 2017
42
KMT2B rare missense variants in generalized dystonia. 38
28520167 2017
43
A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese. 38
28432771 2017
44
Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations. 38
30363085 2017
45
Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology. 38
28546310 2017
46
Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis. 38
28186378 2017
47
Update on the Genetics of Dystonia. 38
28283962 2017
48
DYT2 screening in early-onset isolated dystonia. 38
27771228 2017
49
Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia. 38
28323682 2017
50
Mild parkinsonian features in dystonia: Literature review, mechanisms and clinical perspectives. 38
27825543 2017

Variations for Isolated Dystonia

Expression for Isolated Dystonia

Search GEO for disease gene expression data for Isolated Dystonia.

Pathways for Isolated Dystonia

GO Terms for Isolated Dystonia

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.13 TUBB4A GNAL GCH1
2 GTPase activity GO:0003924 8.8 TUBB4A GNAL GCH1

Sources for Isolated Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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