MCID: ISL135
MIFTS: 22

Isolated Dystonia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Dystonia

MalaCards integrated aliases for Isolated Dystonia:

Name: Isolated Dystonia 58
Pure Dystonia 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G24.1
Orphanet 58 ORPHA156159

Summaries for Isolated Dystonia

MalaCards based summary : Isolated Dystonia, also known as pure dystonia, is related to dystonia 27 and dystonia 6, torsion. 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 dystonia 27 31.6 HPCA GNAL COL6A3 ANO3
2 dystonia 6, torsion 29.6 THAP1 HPCA
3 dystonia 1, torsion, autosomal dominant 29.2 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
4 spasmodic dysphonia 29.0 TUBB4A TOR1A THAP1
5 cervical dystonia 28.1 TOR1A THAP1 GNAL GCH1 ANO3
6 movement disease 27.8 TOR1A THAP1 GNAL GCH1 ANO3
7 focal dystonia 27.6 TOR1A THAP1 GNAL GCH1 ANO3
8 blepharospasm 27.6 TOR1A THAP1 GNAL GCH1 ANO3
9 dystonia 27.4 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
10 dystonia 25 27.1 TUBB4A TOR1A THAP1 HPCA GNAL COL6A3
11 spasmodic dystonia 26.5 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
12 segmental dystonia 26.5 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
13 dyt1 early-onset isolated dystonia 12.4
14 generalized isolated dystonia 12.2
15 early-onset generalized limb-onset dystonia 11.5
16 dyt-gnal 10.1
17 dystonia 2, torsion, autosomal recessive 10.0
18 dyt-thap1 10.0
19 dystonia 4, torsion, autosomal dominant 9.9
20 combined dystonia 9.9
21 spastic monoplegia 9.9 TOR1A HPCA
22 hemifacial spasm, familial 9.7
23 parkinson disease, late-onset 9.7
24 torticollis 9.7
25 metachromatic leukodystrophy 9.7
26 ataxia and polyneuropathy, adult-onset 9.7
27 muscular disease 9.7
28 leukodystrophy 9.7
29 mood disorder 9.7
30 muscular dystrophy 9.7
31 hereditary dystonia 9.7
32 hemifacial spasm 9.7
33 tremor 9.7
34 classic progressive supranuclear palsy syndrome 9.7
35 rare dystonia 9.7
36 rare movement disorder 9.7
37 benign familial infantile epilepsy 9.5 GNAL ANO3
38 complex regional pain syndrome 9.5 TOR1A GCH1
39 cranio-facial dystonia 9.4 TOR1A THAP1 GCH1
40 lymphatic malformation 5 9.3 TOR1A THAP1 GCH1
41 hereditary lymphedema ii 9.3 TOR1A THAP1 GCH1
42 dystonia, dopa-responsive 9.3 TOR1A THAP1 GCH1
43 basal ganglia disease 9.3 TOR1A THAP1 GCH1
44 torsion dystonia 4 9.2 TUBB4A HPCA GNAL ANO3
45 neurodegeneration with brain iron accumulation 9.2 TOR1A THAP1 GCH1
46 dystonia 24 9.2 THAP1 HPCA GNAL ANO3
47 dystonia 12 9.1 TOR1A THAP1 GNAL GCH1
48 dystonia 3, torsion, x-linked 9.0 TOR1A THAP1 HPCA GCH1
49 alternating hemiplegia of childhood 8.9 THAP1 GNAL GCH1 ANO3
50 hemidystonia 8.7 TOR1A THAP1 GNAL GCH1 ANO3

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:

40
Brain, Subthalamic Nucleus, Globus Pallidus, Cortex, Cerebellum

Publications for Isolated Dystonia

Articles related to Isolated Dystonia:

(show top 50) (show all 123)
# Title Authors PMID Year
1
Flanker Task Performance in Isolated Dystonia (Blepharospasm): A Focus on Sequential Effects. 61
32024200 2020
2
Impaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia. 61
31678405 2020
3
COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. 61
32037012 2020
4
Quality of life outcomes after deep brain stimulation in dystonia: A systematic review. 61
31767450 2020
5
Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia. 61
31301343 2019
6
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. 61
31848221 2019
7
Deep brain stimulation in post-traumatic dystonia: A case series study. 61
31033189 2019
8
Meta-Regression Analysis of the Long-Term Effects of Pallidal and Subthalamic Deep Brain Stimulation for the Treatment of Isolated Dystonia. 61
31146039 2019
9
Pharmacological management of abnormal tone and movement in cerebral palsy. 61
30948360 2019
10
Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol. 61
31034808 2019
11
Importance of the initial response to GPi deep brain stimulation in dystonia: A nine year quality of life study. 61
31060987 2019
12
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia! 61
30991467 2019
13
Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia. 61
30849756 2019
14
Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation. 61
30536916 2019
15
Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia. 61
30838317 2019
16
Neuropathology of Dystonia. 61
30886764 2019
17
DYT-GNAL 61
30605297 2019
18
Clinical Features and Treatment in the Spectrum of Paroxysmal Dyskinesias: An Observational Study in South-West Castilla y Leon, Spain. 61
31186958 2019
19
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. 61
30316041 2018
20
Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia. 61
30100364 2018
21
Hip displacement in children with cerebral palsy in Scotland: a total population study. 61
30607212 2018
22
Predictors of alcohol responsiveness in dystonia. 61
30341158 2018
23
Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results. 61
30028274 2018
24
Dystonia. 61
30237473 2018
25
Pediatric Deep Brain Stimulation Using Awake Recording and Stimulation for Target Selection in an Inpatient Neuromodulation Monitoring Unit. 61
30018276 2018
26
Spinocerebellar ataxia type 3 presenting with writer's cramp without ataxia. 61
29164982 2018
27
Surgical treatment of dystonia. 61
29781334 2018
28
Pallidal Deep-Brain Stimulation Disrupts Pallidal Beta Oscillations and Coherence with Primary Motor Cortex in Parkinson's Disease. 61
29661966 2018
29
Cortical gamma oscillations in isolated dystonia. 61
29371063 2018
30
The prevalence of PRKRA mutations in idiopathic dystonia. 61
29279192 2018
31
Diagnosis and treatment of pediatric onset isolated dystonia. 61
29396174 2018
32
DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice. 61
29154038 2018
33
Chronic deep brain stimulation normalizes scalp EEG activity in isolated dystonia. 61
29288993 2018
34
Neuroimaging Applications in Dystonia. 61
30473192 2018
35
Inherited dystonias: clinical features and molecular pathways. 61
29325615 2018
36
Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). 61
29066004 2018
37
Dystonia. 61
30482316 2018
38
The prevalence of adult-onset isolated dystonia in Finland 2007-2016. 61
30458031 2018
39
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. 61
28901595 2018
40
The direct basal ganglia pathway is hyperfunctional in focal dystonia. 61
29087445 2017
41
Pallidal DBS for dystonia in the age of personalized medicine. 61
28964627 2017
42
Tremor in Dystonia: A Cross-sectional Study from India. 61
30868097 2017
43
Causes of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia. 61
28690015 2017
44
Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population. 61
28756192 2017
45
Screening study of TUBB4A in isolated dystonia. 61
28655586 2017
46
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. 61
28398555 2017
47
KMT2B rare missense variants in generalized dystonia. 61
28520167 2017
48
A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese. 61
28432771 2017
49
Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations. 61
30363085 2017
50
Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology. 61
28546310 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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