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:

(showing 52, show less)
# Related Disease Score Top Affiliating Genes
1 dystonia 27 31.5 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 dystonia 27.3 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
8 dystonia 25 27.1 TUBB4A TOR1A THAP1 HPCA GNAL COL6A3
9 spasmodic dystonia 26.5 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
10 segmental dystonia 26.5 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
11 dyt1 early-onset isolated dystonia 12.4
12 generalized isolated dystonia 12.2
13 early-onset generalized limb-onset dystonia 11.5
14 dyt-gnal 10.1
15 dystonia 2, torsion, autosomal recessive 10.0
16 dyt-thap1 10.0
17 spastic monoplegia 9.9 TOR1A HPCA
18 dystonia 4, torsion, autosomal dominant 9.9
19 combined dystonia 9.9
20 parkinson disease, late-onset 9.7
21 torticollis 9.7
22 metachromatic leukodystrophy 9.7
23 ataxia and polyneuropathy, adult-onset 9.7
24 muscular disease 9.7
25 leukodystrophy 9.7
26 mood disorder 9.7
27 muscular dystrophy 9.7
28 hereditary dystonia 9.7
29 tremor 9.7
30 classic progressive supranuclear palsy syndrome 9.7
31 rare movement disorder 9.7
32 complex regional pain syndrome 9.5 TOR1A GCH1
33 benign familial infantile epilepsy 9.5 GNAL ANO3
34 cranio-facial dystonia 9.4 TOR1A THAP1 GCH1
35 lymphatic malformation 5 9.4 TOR1A THAP1 GCH1
36 hereditary lymphedema ii 9.3 TOR1A THAP1 GCH1
37 dystonia, dopa-responsive 9.3 TOR1A THAP1 GCH1
38 basal ganglia disease 9.3 TOR1A THAP1 GCH1
39 neurodegeneration with brain iron accumulation 9.3 TOR1A THAP1 GCH1
40 torsion dystonia 4 9.2 TUBB4A HPCA GNAL ANO3
41 dystonia 24 9.2 THAP1 HPCA GNAL ANO3
42 dystonia 12 9.1 TOR1A THAP1 GNAL GCH1
43 dystonia 3, torsion, x-linked 9.1 TOR1A THAP1 HPCA GCH1
44 alternating hemiplegia of childhood 8.9 THAP1 GNAL GCH1 ANO3
45 focal dystonia 8.7 TOR1A THAP1 GNAL GCH1 ANO3
46 hemidystonia 8.7 TOR1A THAP1 GNAL GCH1 ANO3
47 focal hand dystonia 8.7 TOR1A THAP1 GNAL GCH1 ANO3
48 blepharospasm 8.7 TOR1A THAP1 GNAL GCH1 ANO3
49 dystonia 11, myoclonic 8.6 TOR1A THAP1 GNAL GCH1 ANO3
50 multifocal dystonia 8.3 TOR1A THAP1 HPCA GNAL GCH1 ANO3
51 torsion dystonia 2 8.3 TUBB4A TOR1A THAP1 HPCA GNAL COL6A3
52 oromandibular dystonia 8.3 TUBB4A 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:

(showing 2, show less)
# 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:

(showing 121, show less)
# Title Authors PMID Year
1
Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia. 61
31301343 2019
2
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. 61
31848221 2019
3
Deep brain stimulation in post-traumatic dystonia: A case series study. 61
31033189 2019
4
Quality of life outcomes after deep brain stimulation in dystonia: A systematic review. 61
31767450 2019
5
Impaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia. 61
31678405 2019
6
Meta-Regression Analysis of the Long-Term Effects of Pallidal and Subthalamic Deep Brain Stimulation for the Treatment of Isolated Dystonia. 61
31146039 2019
7
Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol. 61
31034808 2019
8
Pharmacological management of abnormal tone and movement in cerebral palsy. 61
30948360 2019
9
Importance of the initial response to GPi deep brain stimulation in dystonia: A nine year quality of life study. 61
31060987 2019
10
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia! 61
30991467 2019
11
Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia. 61
30849756 2019
12
Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation. 61
30536916 2019
13
Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia. 61
30838317 2019
14
DYT-GNAL 61
30605297 2019
15
Neuropathology of Dystonia. 61
30886764 2019
16
Clinical Features and Treatment in the Spectrum of Paroxysmal Dyskinesias: An Observational Study in South-West Castilla y Leon, Spain. 61
31186958 2019
17
Hip displacement in children with cerebral palsy in Scotland: a total population study. 61
30607212 2018
18
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. 61
30316041 2018
19
Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia. 61
30100364 2018
20
Predictors of alcohol responsiveness in dystonia. 61
30341158 2018
21
Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results. 61
30028274 2018
22
Dystonia. 61
30237473 2018
23
Pediatric Deep Brain Stimulation Using Awake Recording and Stimulation for Target Selection in an Inpatient Neuromodulation Monitoring Unit. 61
30018276 2018
24
Spinocerebellar ataxia type 3 presenting with writer's cramp without ataxia. 61
29164982 2018
25
Surgical treatment of dystonia. 61
29781334 2018
26
Pallidal Deep-Brain Stimulation Disrupts Pallidal Beta Oscillations and Coherence with Primary Motor Cortex in Parkinson's Disease. 61
29661966 2018
27
Cortical gamma oscillations in isolated dystonia. 61
29371063 2018
28
The prevalence of PRKRA mutations in idiopathic dystonia. 61
29279192 2018
29
Diagnosis and treatment of pediatric onset isolated dystonia. 61
29396174 2018
30
DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice. 61
29154038 2018
31
Chronic deep brain stimulation normalizes scalp EEG activity in isolated dystonia. 61
29288993 2018
32
Neuroimaging Applications in Dystonia. 61
30473192 2018
33
Inherited dystonias: clinical features and molecular pathways. 61
29325615 2018
34
Dystonia. 61
30482316 2018
35
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. 61
28901595 2018
36
The prevalence of adult-onset isolated dystonia in Finland 2007-2016. 61
30458031 2018
37
Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). 61
29066004 2018
38
The direct basal ganglia pathway is hyperfunctional in focal dystonia. 61
29087445 2017
39
Pallidal DBS for dystonia in the age of personalized medicine. 61
28964627 2017
40
Tremor in Dystonia: A Cross-sectional Study from India. 61
30868097 2017
41
Causes of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia. 61
28690015 2017
42
Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population. 61
28756192 2017
43
Screening study of TUBB4A in isolated dystonia. 61
28655586 2017
44
KMT2B rare missense variants in generalized dystonia. 61
28520167 2017
45
Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations. 61
30363085 2017
46
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. 61
28398555 2017
47
A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese. 61
28432771 2017
48
Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology. 61
28546310 2017
49
Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis. 61
28186378 2017
50
Update on the Genetics of Dystonia. 61
28283962 2017
51
Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia. 61
28323682 2017
52
DYT2 screening in early-onset isolated dystonia. 61
27771228 2017
53
Mild parkinsonian features in dystonia: Literature review, mechanisms and clinical perspectives. 61
27825543 2017
54
New THAP1 mutation and role of putative modifier in TOR1A. 61
26940431 2017
55
Subthalamic nucleus deep brain stimulation in isolated dystonia: A 3-year follow-up study. 61
27903810 2017
56
Genetic screening of THAP1 in primary dystonia patients of India. 61
27913194 2017
57
Down the Stairs Dystonia-A Novel Task-Specific Focal Isolated Syndrome. 61
30713957 2017
58
Intractable Blepharospasm Treated with Bilateral Pallidal Deep Brain Stimulation. 61
28975046 2017
59
Long-term results of deep brain stimulation in a cohort of eight children with isolated dystonia. 61
27567612 2016
60
Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls. 61
27477622 2016
61
Human striatal recordings reveal abnormal discharge of projection neurons in Parkinson's disease. 61
27503874 2016
62
Medication use in childhood dystonia. 61
26924167 2016
63
Mild cerebello-thalamo-cortical impairment in patients with normal dopaminergic scans (SWEDD). 61
27170027 2016
64
Treatment of Isolated Dystonia with Zolpidem. 61
30713923 2016
65
Subthalamic local field potentials in Parkinson's disease and isolated dystonia: An evaluation of potential biomarkers. 61
26884091 2016
66
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). 61
26687111 2016
67
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing. 61
26991507 2016
68
Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function. 61
26810727 2016
69
The role of mutations in COL6A3 in isolated dystonia. 61
26872670 2016
70
Surgery for Dystonia and Tremor. 61
26838349 2016
71
DYT6 Dystonia: A Neuropathological Study. 61
26610312 2016
72
Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia. 61
26745717 2016
73
Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor. 61
27152246 2016
74
DYT2 revealed: Hippocalcin mutations cause autosomal-recessive isolated dystonia. 61
26094611 2015
75
Patterns of Cortical Synchronization in Isolated Dystonia Compared With Parkinson Disease. 61
26409266 2015
76
TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia. 61
26506956 2015
77
Mutations in GNAL gene in 214 cases with isolated dystonia. 61
26365774 2015
78
Large-scale TUBB4A mutational screening in isolated dystonia and controls. 61
26318963 2015
79
Hot topic: Recessive mutations in the a3(VI) collagen gene COL6A3 cause early-onset isolated dystonia. 61
26260724 2015
80
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 61
26004199 2015
81
Novel compound heterozygous mutations in PRKRA cause pure dystonia. 61
25737287 2015
82
Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia. 61
25914261 2015
83
Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families. 61
25847575 2015
84
Effect of subthalamic nucleus deep brain stimulation on dual-task cognitive and motor performance in isolated dystonia. 61
25012202 2015
85
Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 61
25799108 2015
86
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. 61
25643588 2015
87
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. 61
25653290 2015
88
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. 61
26087139 2015
89
Risk factors for idiopathic dystonia in Queensland, Australia. 61
25082409 2014
90
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. 61
25403864 2014
91
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia. 61
25337725 2014
92
Inherited isolated dystonia: clinical genetics and gene function. 61
25155315 2014
93
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 61
24976531 2014
94
Dystonia: an update on phenomenology, classification, pathogenesis and treatment. 61
24978640 2014
95
Recent advances in the genetics of dystonia. 61
24952478 2014
96
Screening of mutations in GNAL in sporadic dystonia patients. 61
24408567 2014
97
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. 61
24729450 2014
98
Movement disorders of probable infectious origin. 61
25221398 2014
99
Lack of reproducibility in re-evaluating associations between GCH1 polymorphisms and Parkinson's disease and isolated dystonia in an Australian case--control group. 61
24674769 2014
100
DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients. 61
24757586 2014
101
Clinical neurogenetics: dystonia from phenotype to genotype. 61
24176419 2013
102
Dystonia. 61
24092288 2013
103
Genetics of dystonia: what's known? What's new? What's next? 61
23893446 2013
104
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. 61
23180184 2013
105
Shell shock: Psychogenic gait and other movement disorders-A film review. 61
23538744 2013
106
Review: genetics and neuropathology of primary pure dystonia. 61
22897341 2012
107
A clinical profile of 103 patients with secondary movement disorders: correlation of etiology with phenomenology. 61
21777351 2012
108
Overview of primary monogenic dystonia. 61
22166420 2012
109
Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 61
21839475 2011
110
Reaching and writing movements: sensitive and reliable tools to measure genetic dystonia in children. 61
21421904 2011
111
EFNS guidelines on diagnosis and treatment of primary dystonias. 61
20482602 2011
112
Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor. 61
20670416 2010
113
Complications of intrathecal baclofen pump therapy in pediatric patients. 61
20032747 2010
114
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? 61
11835466 2002
115
Thalamic hand dystonia: an MRI anatomoclinical study. 61
11233679 2000
116
DYT1 Early-Onset Isolated Dystonia 61
20301665 1999
117
Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. 61
10195407 1999
118
Dystonia: recent advances. 61
10833562 1999
119
Posttraumatic segmental axial dystonia. 61
1557070 1992
120
[2 cases of isolated dystonia of the upper limb as an early sign of Steele-Richardson-Olszewski disease]. 61
3602792 1987
121
Idiopathic fluctuating dystonia: a case of foot dystonia and writer's cramp responsive to L-dopa. 61
4092856 1985

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:

(showing 2, show less)
# 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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