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 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050838
UMLS 73 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 lymphedema, hereditary, ii. An important gene associated with Segmental Dystonia is TOR1A (Torsin Family 1 Member A). Affiliated tissues include brain, subthalamic nucleus and cerebellum, and related phenotypes are cellular and mortality/aging

Related Diseases for Segmental Dystonia

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 dystonia 28.8 CIZ1 GCH1 THAP1 TOR1A
2 lymphedema, hereditary, ii 27.4 CAMP GCH1 THAP1 TOR1A
3 dystonia 2, torsion, autosomal recessive 10.9
4 dystonia 13, torsion, autosomal dominant 10.9
5 dystonia 27 10.9
6 spasmodic dysphonia 10.2 THAP1 TOR1A
7 torticollis 10.2 CIZ1 TOR1A
8 dystonia 24 10.2 THAP1 TOR1A
9 thiamine metabolism dysfunction syndrome 2 10.0 GCH1 TOR1A
10 leukodystrophy, hypomyelinating, 2 9.9 GCH1 TOR1A
11 dystonia 3, torsion, x-linked 9.8 GCH1 THAP1
12 multifocal dystonia 9.8 CAMP TOR1A
13 movement disease 9.8 GCH1 TOR1A
14 cervicitis 9.8
15 central nervous system disease 9.8 BDNF TUBB3
16 brachial plexus lesion 9.7 BDNF CAMP
17 apraxia of eyelid opening 9.6
18 apraxia 9.6
19 scoliosis 9.6
20 transient global amnesia 9.6
21 tremor 9.6
22 nervous system disease 9.6 BDNF TUBB3
23 early-onset generalized dystonia 9.5 GCH1 THAP1 TOR1A
24 dystonia, dopa-responsive 9.5 GCH1 THAP1 TOR1A
25 benign epilepsy with centrotemporal spikes 9.5 BDNF CAMP
26 parkinson disease, late-onset 9.4 BDNF GCH1 TOR1A
27 spasmodic dystonia 9.3 CAMP THAP1 TOR1A
28 focal hand dystonia 9.3 CAMP THAP1 TOR1A
29 dystonia 1, torsion, autosomal dominant 9.2 CAMP GCH1 TOR1A
30 focal dystonia 8.7 CAMP CIZ1 THAP1 TOR1A
31 oromandibular dystonia 8.6 CAMP GCH1 THAP1 TOR1A
32 blepharospasm 8.6 CAMP GCH1 THAP1 TOR1A
33 cranio-facial dystonia 8.6 CAMP GCH1 THAP1 TOR1A
34 hemidystonia 8.6 CAMP GCH1 THAP1 TOR1A
35 dystonia 11, myoclonic 8.6 CAMP GCH1 THAP1 TOR1A
36 dystonia 12 8.1 CAMP GCH1 THAP1 TOR1A TUBB3
37 cervical dystonia 7.5 BDNF CAMP CIZ1 GCH1 THAP1 TOR1A

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 BDNF CAMP CIZ1 THAP1 TOR1A TUBB3
2 mortality/aging MP:0010768 9.43 BDNF CAMP GCH1 THAP1 TOR1A TUBB3
3 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 Comparison of the Efficacy of Double Monopolar Versus Interleaving Stimulation Modes for Pallidal Deep Brain Stimulation Recruiting NCT01497639 Phase 4
3 Humanitarian Device Exemption Approved for marketing NCT00580658
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:

41
Brain, Subthalamic Nucleus, Cerebellum

Publications for Segmental Dystonia

Articles related to Segmental Dystonia:

(show all 27)
# Title Authors Year
1
Development of Hyperkinesias after Long-term Pallidal Stimulation for Idiopathic Segmental Dystonia. ( 28975047 )
2017
2
Hypokinetic gait changes induced by bilateral pallidal deep brain stimulation for segmental dystonia. ( 27491053 )
2016
3
Bradykinesia induced by frequency-specific pallidal stimulation in patients with cervical and segmental dystonia. ( 25976986 )
2015
4
The role of cerebellum in patients with late onset cervical/segmental dystonia?-Evidence from the clinic. ( 26385708 )
2015
5
Secondary antibody-induced treatment failure under therapy with incobotulinumtoxinA (XeominAr) in a patient with segmental dystonia pretreated with abobotulinumtoxinA (DysportAr). ( 25656102 )
2015
6
TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia. ( 25203860 )
2014
7
Onset latency of segmental dystonia after deep brain stimulation cessation: a randomized, double-blind crossover trial. ( 24375720 )
2014
8
Tremor associated with focal and segmental dystonia. ( 23821419 )
2013
9
Transient global amnesia associated with accidental high-frequency stimulation of the right hippocampus in deep brain stimulation for segmental dystonia. ( 23969701 )
2013
10
A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia. ( 23381842 )
2013
11
Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial. ( 23123071 )
2012
12
Evaluation of the quality of life in patients with segmental dystonia. ( 23050399 )
2012
13
Micrographia induced by pallidal DBS for segmental dystonia: a subtle sign of hypokinesia? ( 21246224 )
2011
14
Low-voltage bilateral pallidal stimulation for severe meige syndrome in a patient with primary segmental dystonia: case report. ( 20729656 )
2010
15
Pallidal stimulation for segmental dystonia: long term follow up of 11 consecutive patients. ( 19562774 )
2009
16
Chronic deep brain stimulation for segmental dystonia. ( 19844137 )
2009
17
Prevalence of primary focal or segmental dystonia in adults in the district of foggia, southern Italy: a service-based study. ( 19556806 )
2009
18
Health-related quality of life in segmental dystonia is improved by bilateral pallidal stimulation. ( 18204923 )
2008
19
Successful bilateral subthalamic nucleus stimulation for segmental dystonia after unilateral pallidotomy. ( 18073520 )
2008
20
Segmental dystonia following electrocution in childhood. ( 17385094 )
2007
21
The difficult management of patients with respiratory segmental dystonia. ( 17589739 )
2007
22
Patterns of reoccurrence of segmental dystonia after discontinuation of deep brain stimulation. ( 17030588 )
2007
23
Improvement of cervico-trunco-brachial segmental dystonia with topiramate. ( 16328112 )
2006
24
Pallidal deep-brain stimulation in primary generalized or segmental dystonia. ( 17093249 )
2006
25
Symptomatic segmental dystonia from a cavernous angioma in the centrum semiovale. ( 15619465 )
2005
26
Post-encephalitic segmental dystonia with apraxia of eyelid opening. ( 15036173 )
2004
27
Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family. ( 15258787 )
2004

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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