MCID: SGM008
MIFTS: 26

Segmental Dystonia

Categories: Neuronal diseases

Aliases & Classifications for Segmental Dystonia

MalaCards integrated aliases for Segmental Dystonia:

Name: Segmental Dystonia 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0050838
UMLS 74 C1997740

Summaries for Segmental Dystonia

Disease Ontology : 12 A dystonia that affects two or more adjacent parts of the body.

MalaCards based summary : Segmental Dystonia is related to dystonia and torticollis. An important gene associated with Segmental Dystonia is TOR1A (Torsin Family 1 Member A). Affiliated tissues include brain, cerebellum and globus pallidus, and related phenotypes are mortality/aging and vision/eye

Related Diseases for Segmental Dystonia

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 dystonia 29.5 CIZ1 GCH1 GNAL THAP1 TOR1A
2 torticollis 29.5 CIZ1 TOR1A
3 dystonia, dopa-responsive 29.4 GCH1 THAP1 TOR1A
4 dystonia 2, torsion, autosomal recessive 11.1
5 dystonia 13, torsion, autosomal dominant 11.1
6 dystonia 27 11.1
7 spasmodic dysphonia 10.1 THAP1 TOR1A
8 dystonia 24 10.1 THAP1 TOR1A
9 multifocal dystonia 10.0 CAMP TOR1A
10 thiamine metabolism dysfunction syndrome 2 10.0 GCH1 TOR1A
11 dystonia 3, torsion, x-linked 10.0 GCH1 THAP1
12 leukodystrophy, hypomyelinating, 2 9.9 GCH1 TOR1A
13 brachial plexus lesion 9.9 BDNF CAMP
14 movement disease 9.9 GCH1 TOR1A
15 lymphatic malformation 5 9.8
16 ataxia-telangiectasia 9.8
17 ataxia and polyneuropathy, adult-onset 9.8
18 apraxia of eyelid opening 9.8
19 lymphoma 9.8
20 apraxia 9.8
21 scoliosis 9.8
22 amnestic disorder 9.8
23 telangiectasis 9.8
24 transient global amnesia 9.8
25 tremor 9.8
26 focal hand dystonia 9.8 CAMP THAP1 TOR1A
27 dystonia 1, torsion, autosomal dominant 9.7 CAMP GCH1 TOR1A
28 benign epilepsy with centrotemporal spikes 9.7 BDNF CAMP
29 spasmodic dystonia 9.5 CAMP GNAL THAP1 TOR1A
30 oromandibular dystonia 9.5 CAMP GCH1 THAP1 TOR1A
31 dystonia 12 9.5 CAMP GCH1 THAP1 TOR1A
32 hemidystonia 9.5 CAMP GCH1 THAP1 TOR1A
33 dystonia 11, myoclonic 9.5 CAMP GCH1 THAP1 TOR1A
34 blepharospasm 9.2 CAMP GCH1 GNAL THAP1 TOR1A
35 focal dystonia 9.0 CAMP CIZ1 GNAL THAP1 TOR1A
36 cervical dystonia 8.5 BDNF CAMP CIZ1 GCH1 GNAL THAP1

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



Diseases related to Segmental Dystonia

Symptoms & Phenotypes for Segmental Dystonia

MGI Mouse Phenotypes related to Segmental Dystonia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.43 BDNF CAMP GCH1 GNAL THAP1 TOR1A
2 vision/eye MP:0005391 8.92 BDNF CAMP THAP1 TOR1A

Drugs & Therapeutics for Segmental Dystonia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia Unknown status NCT00142259 Phase 4
2 Humanitarian Device Exemption Approved for marketing NCT00580658
3 Comparison of the Efficacy of Double Monopolar Versus Interleaving Stimulation Modes for Pallidal Deep Brain Stimulation Completed NCT01497639 Not Applicable
4 Investigation of Non-Invasive Outcomes Predictors in Patients Undergoing DBS for Movement Disorders Completed NCT02488837
5 Validation of the Implantation of a New Electrode for the Treatment of Dystonia Terminated NCT02509338 Not Applicable

Search NIH Clinical Center for Segmental Dystonia

Genetic Tests for Segmental Dystonia

Anatomical Context for Segmental Dystonia

MalaCards organs/tissues related to Segmental Dystonia:

42
Brain, Cerebellum, Globus Pallidus, Subthalamic Nucleus

Publications for Segmental Dystonia

Articles related to Segmental Dystonia:

(show all 41)
# Title Authors Year
1
The Prevalence and Correlation of Non-motor Symptoms in Adult Patients with Idiopathic Focal or Segmental Dystonia. ( 30783550 )
2019
2
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia. ( 30363071 )
2018
3
A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia. ( 30284773 )
2018
4
Development of Hyperkinesias after Long-term Pallidal Stimulation for Idiopathic Segmental Dystonia. ( 28975047 )
2017
5
Hypokinetic gait changes induced by bilateral pallidal deep brain stimulation for segmental dystonia. ( 27491053 )
2016
6
The role of cerebellum in patients with late onset cervical/segmental dystonia?--evidence from the clinic. ( 26385708 )
2015
7
Secondary antibody-induced treatment failure under therapy with incobotulinumtoxinA (Xeomin®) in a patient with segmental dystonia pretreated with abobotulinumtoxinA (Dysport®). ( 25656102 )
2015
8
Bradykinesia induced by frequency-specific pallidal stimulation in patients with cervical and segmental dystonia. ( 25976986 )
2015
9
Segmental Dystonia in the Context of Dextromethorphan Abuse: A New Cause of Delayed Onset Drug-Induced Dystonia? ( 30838232 )
2015
10
TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia. ( 25203860 )
2015
11
Onset latency of segmental dystonia after deep brain stimulation cessation: a randomized, double-blind crossover trial. ( 24375720 )
2014
12
Tremor associated with focal and segmental dystonia. ( 23821419 )
2013
13
Transient global amnesia associated with accidental high-frequency stimulation of the right hippocampus in deep brain stimulation for segmental dystonia. ( 23969701 )
2013
14
A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia. ( 23381842 )
2013
15
Evaluation of the quality of life in patients with segmental dystonia. ( 23050399 )
2012
16
Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial. ( 23123071 )
2012
17
Micrographia induced by pallidal DBS for segmental dystonia: a subtle sign of hypokinesia? ( 21246224 )
2011
18
Low-voltage bilateral pallidal stimulation for severe meige syndrome in a patient with primary segmental dystonia: case report. ( 20729656 )
2010
19
Prevalence of primary focal or segmental dystonia in adults in the district of foggia, southern Italy: a service-based study. ( 19556806 )
2009
20
Pallidal stimulation for segmental dystonia: long term follow up of 11 consecutive patients. ( 19562774 )
2009
21
Chronic deep brain stimulation for segmental dystonia. ( 19844137 )
2009
22
Successful bilateral subthalamic nucleus stimulation for segmental dystonia after unilateral pallidotomy. ( 18073520 )
2008
23
Health-related quality of life in segmental dystonia is improved by bilateral pallidal stimulation. ( 18204923 )
2008
24
Patterns of reoccurrence of segmental dystonia after discontinuation of deep brain stimulation. ( 17030588 )
2007
25
Segmental dystonia following electrocution in childhood. ( 17385094 )
2007
26
The difficult management of patients with respiratory segmental dystonia. ( 17589739 )
2007
27
Improvement of cervico-trunco-brachial segmental dystonia with topiramate. ( 16328112 )
2006
28
Pallidal deep-brain stimulation in primary generalized or segmental dystonia. ( 17093249 )
2006
29
Symptomatic segmental dystonia from a cavernous angioma in the centrum semiovale. ( 15619465 )
2005
30
Post-encephalitic segmental dystonia with apraxia of eyelid opening. ( 15036173 )
2004
31
Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family. ( 15258787 )
2004
32
Segmental dystonia induced by wearing glasses with a ribbon: an unusual case of a reverse sensory geste. ( 15300666 )
2004
33
Risperidone-responsive segmental dystonia and pallidal deep brain stimulation. ( 12939435 )
2003
34
Prevalence of primary focal and segmental dystonia in Oslo. ( 14610144 )
2003
35
Segmental dystonia as the sole manifestation of carbamazepine toxicity. ( 11869747 )
2002
36
Unilateral lesions of the globus pallidus: report of four patients presenting with focal or segmental dystonia. ( 10990510 )
2000
37
Bilateral segmental dystonia in a professional tennis player. ( 10449007 )
1999
38
Cryotherapy as a precipitant factor in focal and segmental dystonia. ( 10449963 )
1999
39
Efficacy of risperidone in idiopathic segmental dystonia. ( 8538330 )
1996
40
Primary CNS lymphoma presenting as a choreic movement disorder followed by segmental dystonia. ( 3211177 )
1988
41
Effect of L-glutamine and isoniazid on torticollis and segmental dystonia. ( 7294731 )
1981

Variations for Segmental Dystonia

Expression for Segmental Dystonia

Search GEO for disease gene expression data for Segmental Dystonia.

Pathways for Segmental Dystonia

GO Terms for Segmental Dystonia

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

# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle GO:0008021 8.62 BDNF TOR1A

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

# Name GO ID Score Top Affiliating Genes
1 regulation of protein localization to cell surface GO:2000008 8.62 BDNF TOR1A

Sources for Segmental Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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