MCID: ISL135
MIFTS: 24

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 1, torsion, autosomal dominant. An important gene associated with Isolated Dystonia is COL6A3 (Collagen Type VI Alpha 3 Chain). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. 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 57, show less)
# Related Disease Score Top Affiliating Genes
1 dystonia 27 31.6 HPCA GNAL COL6A3 ANO3
2 dystonia 1, torsion, autosomal dominant 29.9 TOR1A THAP1 HPCA GNAL GCH1 ANO3
3 spasmodic dysphonia 29.0 TUBB4A TOR1A THAP1
4 hereditary dystonia 28.9 GCH1 ANO3
5 cervical dystonia 28.1 TOR1A THAP1 GNAL GCH1 ANO3
6 movement disease 27.8 TOR1A THAP1 GNAL GCH1 ANO3
7 focal dystonia 27.7 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 26.6 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
12 segmental dystonia 26.6 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 11.6
16 dyt-gnal 10.1
17 dystonia 2, torsion, autosomal recessive 10.0
18 dyt-thap1 10.0
19 spastic monoplegia 9.9 TOR1A HPCA
20 dystonia 4, torsion, autosomal dominant 9.9
21 combined dystonia 9.9
22 dystonia 6, torsion 9.8 THAP1 HPCA
23 hemifacial spasm, familial 9.7
24 parkinson disease, late-onset 9.7
25 torticollis 9.7
26 metachromatic leukodystrophy 9.7
27 ataxia and polyneuropathy, adult-onset 9.7
28 muscular disease 9.7
29 leukodystrophy 9.7
30 mood disorder 9.7
31 muscular dystrophy 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 THAP1 GNAL ANO3
38 leber optic atrophy and dystonia 9.5 THAP1 GCH1
39 purine-pyrimidine metabolic disorder 9.4 THAP1 GCH1
40 cranio-facial dystonia 9.4 TOR1A THAP1 GCH1
41 lymphatic malformation 5 9.4 TOR1A THAP1 GCH1
42 hereditary lymphedema ii 9.3 TOR1A THAP1 GCH1
43 dystonia, dopa-responsive 9.3 TOR1A THAP1 GCH1
44 complex regional pain syndrome 9.3 TOR1A GCH1
45 basal ganglia disease 9.3 TOR1A THAP1 GCH1
46 neurodegeneration with brain iron accumulation 9.3 TOR1A THAP1 GCH1
47 torsion dystonia 4 9.3 TUBB4A HPCA GNAL ANO3
48 dystonia 24 9.2 THAP1 HPCA GNAL ANO3
49 dystonia 3, torsion, x-linked 9.0 TOR1A THAP1 HPCA GCH1
50 alternating hemiplegia of childhood 8.9 THAP1 GNAL GCH1 ANO3
51 hemidystonia 8.7 TOR1A THAP1 GNAL GCH1 ANO3
52 focal hand dystonia 8.7 TOR1A THAP1 GNAL GCH1 ANO3
53 dystonia 11, myoclonic 8.7 TOR1A THAP1 GNAL GCH1 ANO3
54 oromandibular dystonia 8.6 TUBB4A TOR1A THAP1 GCH1 ANO3
55 multifocal dystonia 8.4 TOR1A THAP1 HPCA GNAL GCH1 ANO3
56 dystonia 12 8.3 TOR1A THAP1 HPCA GNAL GCH1 ANO3
57 torsion dystonia 2 8.3 TUBB4A TOR1A THAP1 HPCA GNAL COL6A3

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

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

(showing 4, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational 51-84-3 187
2 Cholinergic Agents
3 Neurotransmitter Agents
4 Botulinum Toxins

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Functional Magnetic Resonance and Diffusion Tensor Imaging in the Preoperative Assessment of Dystonia Unknown status NCT02877836
2 Closed Loop Deep Brain Stimulation in Parkinson's Disease and Dystonia (Activa RC+S) Recruiting NCT03582891
3 Long-term Outcome in Cervical Dystonia Patients Treated With Chronic Pallidal Deep Brain Stimulation Compared to Repeated Botulinum Toxin Injections - a Cross-sectional Observational Study Enrolling by invitation NCT04432285 Botulinum toxin

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 132, show less)
# Title Authors PMID Year
1
Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia. 61
32243914 2020
2
Pallidal lead placement in dystonia: leads of non-responders are contained within an anatomical range defined by responders. 61
32067124 2020
3
Long-term effects of bilateral pallidal deep brain stimulation in dystonia: a follow-up between 8 and 16 years. 61
32055996 2020
4
Pallidal Activity in Cervical Dystonia with and Without Head Tremor. 61
32095996 2020
5
Models of dystonia: an update. 61
32289333 2020
6
Minimal Clinically Important Differences for Burke-Fahn-Marsden Dystonia Rating Scale and 36-Item Short-Form Health Survey. 61
32441447 2020
7
Subthalamic Nucleus Stimulation in Pediatric Isolated Dystonia: A 10-Year Follow-up. 61
32252836 2020
8
Long term perceptions of illness and self after Deep Brain Stimulation in pediatric dystonia: A narrative research. 61
32147411 2020
9
COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. 61
32037012 2020
10
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. 61
31848221 2020
11
Impaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia. 61
31678405 2020
12
Flanker Task Performance in Isolated Dystonia (Blepharospasm): A Focus on Sequential Effects. 61
32024200 2020
13
Secondary atlantoaxial subluxation in isolated cervical dystonia-a case report. 61
32420532 2020
14
Quality of life outcomes after deep brain stimulation in dystonia: A systematic review. 61
31767450 2020
15
Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia. 61
31301343 2019
16
Deep brain stimulation in post-traumatic dystonia: A case series study. 61
31033189 2019
17
Meta-Regression Analysis of the Long-Term Effects of Pallidal and Subthalamic Deep Brain Stimulation for the Treatment of Isolated Dystonia. 61
31146039 2019
18
Pharmacological management of abnormal tone and movement in cerebral palsy. 61
30948360 2019
19
Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol. 61
31034808 2019
20
Importance of the initial response to GPi deep brain stimulation in dystonia: A nine year quality of life study. 61
31060987 2019
21
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia! 61
30991467 2019
22
Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia. 61
30849756 2019
23
Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia. 61
30838317 2019
24
Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation. 61
30536916 2019
25
DYT-GNAL 61
30605297 2019
26
Clinical Features and Treatment in the Spectrum of Paroxysmal Dyskinesias: An Observational Study in South-West Castilla y Leon, Spain. 61
31186958 2019
27
Neuropathology of Dystonia. 61
30886764 2019
28
Hip displacement in children with cerebral palsy in Scotland: a total population study. 61
30607212 2018
29
Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia. 61
30100364 2018
30
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. 61
30316041 2018
31
Predictors of alcohol responsiveness in dystonia. 61
30341158 2018
32
Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results. 61
30028274 2018
33
Dystonia. 61
30237473 2018
34
Pediatric Deep Brain Stimulation Using Awake Recording and Stimulation for Target Selection in an Inpatient Neuromodulation Monitoring Unit. 61
30018276 2018
35
Spinocerebellar ataxia type 3 presenting with writer's cramp without ataxia. 61
29164982 2018
36
Surgical treatment of dystonia. 61
29781334 2018
37
Pallidal Deep-Brain Stimulation Disrupts Pallidal Beta Oscillations and Coherence with Primary Motor Cortex in Parkinson's Disease. 61
29661966 2018
38
Cortical gamma oscillations in isolated dystonia. 61
29371063 2018
39
The prevalence of PRKRA mutations in idiopathic dystonia. 61
29279192 2018
40
Diagnosis and treatment of pediatric onset isolated dystonia. 61
29396174 2018
41
DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice. 61
29154038 2018
42
Chronic deep brain stimulation normalizes scalp EEG activity in isolated dystonia. 61
29288993 2018
43
Neuroimaging Applications in Dystonia. 61
30473192 2018
44
The prevalence of adult-onset isolated dystonia in Finland 2007-2016. 61
30458031 2018
45
Inherited dystonias: clinical features and molecular pathways. 61
29325615 2018
46
Dystonia. 61
30482316 2018
47
Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). 61
29066004 2018
48
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. 61
28901595 2018
49
The direct basal ganglia pathway is hyperfunctional in focal dystonia. 61
29087445 2017
50
Pallidal DBS for dystonia in the age of personalized medicine. 61
28964627 2017
51
Tremor in Dystonia: A Cross-sectional Study from India. 61
30868097 2017
52
Causes of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia. 61
28690015 2017
53
Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population. 61
28756192 2017
54
Screening study of TUBB4A in isolated dystonia. 61
28655586 2017
55
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. 61
28398555 2017
56
KMT2B rare missense variants in generalized dystonia. 61
28520167 2017
57
A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese. 61
28432771 2017
58
Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations. 61
30363085 2017
59
Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology. 61
28546310 2017
60
Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis. 61
28186378 2017
61
Update on the Genetics of Dystonia. 61
28283962 2017
62
Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia. 61
28323682 2017
63
DYT2 screening in early-onset isolated dystonia. 61
27771228 2017
64
New THAP1 mutation and role of putative modifier in TOR1A. 61
26940431 2017
65
Mild parkinsonian features in dystonia: Literature review, mechanisms and clinical perspectives. 61
27825543 2017
66
Genetic screening of THAP1 in primary dystonia patients of India. 61
27913194 2017
67
Down the Stairs Dystonia-A Novel Task-Specific Focal Isolated Syndrome. 61
30713957 2017
68
Intractable Blepharospasm Treated with Bilateral Pallidal Deep Brain Stimulation. 61
28975046 2017
69
Subthalamic nucleus deep brain stimulation in isolated dystonia: A 3-year follow-up study. 61
27903810 2017
70
Long-term results of deep brain stimulation in a cohort of eight children with isolated dystonia. 61
27567612 2016
71
Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls. 61
27477622 2016
72
Human striatal recordings reveal abnormal discharge of projection neurons in Parkinson's disease. 61
27503874 2016
73
Mild cerebello-thalamo-cortical impairment in patients with normal dopaminergic scans (SWEDD). 61
27170027 2016
74
Medication use in childhood dystonia. 61
26924167 2016
75
Subthalamic local field potentials in Parkinson's disease and isolated dystonia: An evaluation of potential biomarkers. 61
26884091 2016
76
Treatment of Isolated Dystonia with Zolpidem. 61
30713923 2016
77
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). 61
26687111 2016
78
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing. 61
26991507 2016
79
Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function. 61
26810727 2016
80
The role of mutations in COL6A3 in isolated dystonia. 61
26872670 2016
81
Surgery for Dystonia and Tremor. 61
26838349 2016
82
DYT6 Dystonia: A Neuropathological Study. 61
26610312 2016
83
Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor. 61
27152246 2016
84
Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia. 61
26745717 2016
85
TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia. 61
26506956 2015
86
Mutations in GNAL gene in 214 cases with isolated dystonia. 61
26365774 2015
87
Patterns of Cortical Synchronization in Isolated Dystonia Compared With Parkinson Disease. 61
26409266 2015
88
DYT2 revealed: Hippocalcin mutations cause autosomal-recessive isolated dystonia. 61
26094611 2015
89
Large-scale TUBB4A mutational screening in isolated dystonia and controls. 61
26318963 2015
90
Hot topic: Recessive mutations in the a3(VI) collagen gene COL6A3 cause early-onset isolated dystonia. 61
26260724 2015
91
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 61
26004199 2015
92
Novel compound heterozygous mutations in PRKRA cause pure dystonia. 61
25737287 2015
93
Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia. 61
25914261 2015
94
Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families. 61
25847575 2015
95
Effect of subthalamic nucleus deep brain stimulation on dual-task cognitive and motor performance in isolated dystonia. 61
25012202 2015
96
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. 61
25643588 2015
97
Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 61
25799108 2015
98
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. 61
25653290 2015
99
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. 61
26087139 2015
100
Risk factors for idiopathic dystonia in Queensland, Australia. 61
25082409 2014
101
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. 61
25403864 2014
102
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia. 61
25337725 2014
103
Inherited isolated dystonia: clinical genetics and gene function. 61
25155315 2014
104
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 61
24976531 2014
105
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. 61
24729450 2014
106
Screening of mutations in GNAL in sporadic dystonia patients. 61
24408567 2014
107
Dystonia: an update on phenomenology, classification, pathogenesis and treatment. 61
24978640 2014
108
Recent advances in the genetics of dystonia. 61
24952478 2014
109
Movement disorders of probable infectious origin. 61
25221398 2014
110
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
111
DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients. 61
24757586 2014
112
Clinical neurogenetics: dystonia from phenotype to genotype. 61
24176419 2013
113
Dystonia. 61
24092288 2013
114
Genetics of dystonia: what's known? What's new? What's next? 61
23893446 2013
115
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. 61
23180184 2013
116
Shell shock: Psychogenic gait and other movement disorders-A film review. 61
23538744 2013
117
Review: genetics and neuropathology of primary pure dystonia. 61
22897341 2012
118
A clinical profile of 103 patients with secondary movement disorders: correlation of etiology with phenomenology. 61
21777351 2012
119
Overview of primary monogenic dystonia. 61
22166420 2012
120
Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 61
21839475 2011
121
Reaching and writing movements: sensitive and reliable tools to measure genetic dystonia in children. 61
21421904 2011
122
EFNS guidelines on diagnosis and treatment of primary dystonias. 61
20482602 2011
123
Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor. 61
20670416 2010
124
Complications of intrathecal baclofen pump therapy in pediatric patients. 61
20032747 2010
125
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? 61
11835466 2002
126
Thalamic hand dystonia: an MRI anatomoclinical study. 61
11233679 2000
127
DYT1 Early-Onset Isolated Dystonia 61
20301665 1999
128
Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. 61
10195407 1999
129
Dystonia: recent advances. 61
10833562 1999
130
Posttraumatic segmental axial dystonia. 61
1557070 1992
131
[2 cases of isolated dystonia of the upper limb as an early sign of Steele-Richardson-Olszewski disease]. 61
3602792 1987
132
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 3, show less)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.46 TOR1A THAP1 HPCA GCH1
2 GTP binding GO:0005525 9.13 TUBB4A GNAL GCH1
3 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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