MCID: SGM008
MIFTS: 28

Segmental Dystonia

Categories: Neuronal diseases

Aliases & Classifications for Segmental Dystonia

MalaCards integrated aliases for Segmental Dystonia:

Name: Segmental Dystonia 12 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0050838
UMLS 70 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 27 and torticollis. An important gene associated with Segmental Dystonia is TOR1A (Torsin Family 1 Member A). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and subthalamic nucleus, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Segmental Dystonia

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 dystonia 27 31.0 HPCA GNAL CIZ1 ANO3
2 torticollis 30.3 TOR1A CIZ1
3 hereditary dystonia 29.4 TUBB4A THAP1 GCH1 ANO3
4 dystonia 24 29.2 THAP1 HPCA GNAL ANO3
5 lymphatic malformation 5 29.2 TOR1A THAP1 TAF1L TAF1 SGCE
6 choreatic disease 28.8 TOR1A THAP1 SGCE PNKD GNAL GCH1
7 dystonia 1, torsion, autosomal dominant 28.6 TOR1A THAP1 SGCE HPCA GNAL CIZ1
8 cervical dystonia 28.6 TOR1A THAP1 SGCE PRKRA GNAL GCH1
9 blepharospasm 27.9 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
10 hemidystonia 27.8 TOR1A THAP1 TAF1L TAF1 SGCE PNKD
11 dystonia, dopa-responsive 27.7 TOR1A THAP1 TAF1L TAF1 SGCE PRKRA
12 dystonia 27.4 TUBB4A TOR1A THAP1 TAF1 SGCE PRKRA
13 focal dystonia 27.0 TUBB4A TOR1A THAP1 TAF1L TAF1 SGCE
14 movement disease 26.6 TOR1A THAP1 TAF1L TAF1 SGCE PRKRA
15 dystonia 2, torsion, autosomal recessive 11.0
16 dystonia 13, torsion, autosomal dominant 11.0
17 cranio-facial dystonia 10.3 TOR1A THAP1
18 tremor 10.2
19 conversion disorder 10.2 TOR1A BDNF
20 dystonia 23 10.2 CIZ1 ANO3
21 dystonia 6, torsion 10.2 THAP1 CIZ1
22 cortical deafness 10.1 BDNF ATP1A3
23 parkinsonism 10.1
24 leber optic atrophy and dystonia 10.1 SGCE GCH1
25 oculogyric crisis 10.0 GCH1 ATP1A3
26 spasmodic dysphonia 10.0 TUBB4A TOR1A THAP1
27 ataxia and polyneuropathy, adult-onset 10.0
28 chorea, childhood-onset, with psychomotor retardation 10.0
29 essential tremor 10.0
30 neurodegeneration with brain iron accumulation 10.0 TOR1A THAP1 ATP1A3
31 spastic monoplegia 10.0 TOR1A HPCA
32 obsessive-compulsive disorder 9.9 TOR1A SGCE BDNF
33 multiple system atrophy 1 9.8
34 myositis 9.8
35 ataxia-telangiectasia 9.8
36 kearns-sayre syndrome 9.8
37 apraxia of eyelid opening 9.8
38 tumor predisposition syndrome 9.8
39 cutaneous telangiectasia and cancer syndrome, familial 9.8
40 apraxia 9.8
41 scoliosis 9.8
42 ptosis 9.8
43 meningoencephalitis 9.8
44 amnestic disorder 9.8
45 social phobia 9.8
46 arteriovenous malformation 9.8
47 telangiectasis 9.8
48 transient global amnesia 9.8
49 sensory peripheral neuropathy 9.8
50 central nervous system lymphoma 9.8

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 behavior/neurological MP:0005386 9.93 ATP1A3 BDNF CIZ1 GCH1 GNAL HPCA
2 growth/size/body region MP:0005378 9.65 ATP1A3 BDNF CIZ1 GCH1 GNAL PRKRA
3 nervous system MP:0003631 9.32 ATP1A3 BDNF GCH1 HPCA PNKD PRKRA

Drugs & Therapeutics for Segmental Dystonia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved 1401-55-4
2
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of the Efficacy of Double Monopolar Versus Interleaving Stimulation Modes for the Deep Brain Stimulation Treatment of Primary Generalized or Segmental Dystonia Completed NCT01497639
2 Subthalamic Nucleus Deep Brain Stimulation in Isolated Generalized or Segmental Dystonia: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel-group Trial Not yet recruiting NCT04650958

Search NIH Clinical Center for Segmental Dystonia

Genetic Tests for Segmental Dystonia

Anatomical Context for Segmental Dystonia

MalaCards organs/tissues related to Segmental Dystonia:

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

Publications for Segmental Dystonia

Articles related to Segmental Dystonia:

(show top 50) (show all 226)
# Title Authors PMID Year
1
Arching deep brain stimulation in dystonia types. 61
33740122 2021
2
Segmental dystonia after radical neck dissection and radiotherapy: a case report. 61
33029665 2021
3
Parameters for subthalamic deep brain stimulation in patients with dystonia: a systematic review. 61
33385242 2021
4
Isolated dystonia: clinical and genetic updates. 61
33247415 2020
5
Idiopathic Non-task-Specific Upper Limb Dystonia, a Neglected Form of Dystonia. 61
32662572 2020
6
Rest tremor in dystonia: epidemiology, differential diagnosis, and pathophysiology. 61
32328831 2020
7
Spectrum of Truncal Dystonia and Response to Treatment: A Retrospective Analysis. 61
33623265 2020
8
Minimal Clinically Important Differences for Burke-Fahn-Marsden Dystonia Rating Scale and 36-Item Short-Form Health Survey. 61
32441447 2020
9
Pallidal Deep Brain Stimulation Reduces Sensorimotor Cortex Activation in Focal/Segmental Dystonia. 61
31922299 2020
10
Sensitivity and pain in focal dystonia of the hand. 61
32327198 2020
11
Stimulation-induced side effects after deep brain stimulation - a systematic review. 61
31452489 2020
12
Case Report: Globus Pallidus Internus (GPi) Deep Brain Stimulation Induced Keyboard Typing Dysfunction. 61
33240065 2020
13
Quality of life in idiopathic dystonia: a systematic review. 61
30460447 2019
14
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population. 61
31523939 2019
15
Pallidothalamic Tractotomy (Forel's Field H1-tomy) for Dystonia: Preliminary Results. 61
31207377 2019
16
Update on current and emerging therapies for dystonia. 61
31117876 2019
17
Deep brain stimulation for dystonia. 61
30629283 2019
18
A new approach for estimation of spiketrain patterns in basal ganglia. 61
31325991 2019
19
Neuropathology of Dystonia. 61
30886764 2019
20
High Prevalence of Dystonia in the Faroe Islands: A Population-Based Study. 61
31430749 2019
21
The Prevalence and Correlation of Non-motor Symptoms in Adult Patients with Idiopathic Focal or Segmental Dystonia. 61
30783550 2019
22
A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia. 61
30284773 2018
23
Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients. 61
29860784 2018
24
Pharyngeal Dystonia Mimicking Spasmodic Dysphonia. 61
28651822 2018
25
Dystonia: Then and now. 61
28843401 2018
26
Patient Evaluation and Selection for Movement Disorders Surgery: The Changing Spectrum of Indications. 61
29332075 2018
27
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia. 61
30363071 2018
28
Tremor in Dystonia: A Cross-sectional Study from India. 61
30868097 2017
29
Neuropsychological and psychiatric outcome of GPi-deep brain stimulation in dystonia. 61
28647175 2017
30
Constant-Current Deep Brain Stimulation of the Globus Pallidus Internus in the Treatment of Primary Dystonia by a Novel 8-Contact (Octrode) Lead. 61
28363831 2017
31
Headache Attributed to Craniocervical Dystonia - A Little Known Headache. 61
27910093 2017
32
Sensory Alterations in Patients with Isolated Idiopathic Dystonia: An Exploratory Quantitative Sensory Testing Analysis. 61
29089923 2017
33
Development of Hyperkinesias after Long-term Pallidal Stimulation for Idiopathic Segmental Dystonia. 61
28975047 2017
34
An unusual presentation of tyrosine hydroxylase deficiency. 61
29225908 2017
35
Speech-Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function. 61
28983422 2017
36
Hypometric anticipatory postural adjustments in dystonia are not affected by deep brain stimulation of globus pallidus internus. 61
27836806 2017
37
Clinical and demographic characteristics related to onset site and spread of cervical dystonia. 61
27753188 2016
38
High rates of fatigue and sleep disturbances in dystonia. 61
26289935 2016
39
Hypokinetic gait changes induced by bilateral pallidal deep brain stimulation for segmental dystonia. 61
27491053 2016
40
Abnormal movement-related suppression of sensory evoked potentials in upper limb dystonia. 61
26757449 2016
41
Postural stability under globus pallidus internus stimulation for dystonia. 61
25771176 2015
42
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. 61
26486352 2015
43
Patterns of Cortical Synchronization in Isolated Dystonia Compared With Parkinson Disease. 61
26409266 2015
44
Deep brain stimulation for movement disorders: update on recent discoveries and outlook on future developments. 61
26037016 2015
45
The role of cerebellum in patients with late onset cervical/segmental dystonia?--evidence from the clinic. 61
26385708 2015
46
Segmental Dystonia in the Context of Dextromethorphan Abuse: A New Cause of Delayed Onset Drug-Induced Dystonia? 61
30838232 2015
47
A case of thrombosis of subcutaneous anterior chest veins (Mondor's disease) as an unusual complication of botulinum type A injection. 61
26126167 2015
48
Deep anterior cerebellar stimulation reduces symptoms of secondary dystonia in patients with cerebral palsy treated due to spasticity. 61
26038278 2015
49
Bradykinesia induced by frequency-specific pallidal stimulation in patients with cervical and segmental dystonia. 61
25976986 2015
50
Safe Administration of Botulinum Toxin Type A Injections During Pregnancy: A Report of Two Cases. 61
30363903 2015

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 dendrite membrane GO:0032590 8.96 SGCE HPCA
2 neuronal cell body membrane GO:0032809 8.62 HPCA ATP1A3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-templated transcription, initiation GO:0006352 9.26 TAF1L TAF1
2 RNA polymerase II preinitiation complex assembly GO:0051123 9.16 TAF1L TAF1
3 neuromuscular process controlling posture GO:0050884 8.96 PNKD GCH1
4 regulation of protein localization to cell surface GO:2000008 8.62 TOR1A BDNF

Molecular functions related to Segmental Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone acetyltransferase activity GO:0004402 9.26 TAF1L TAF1
2 RNA polymerase II general transcription initiation factor activity GO:0016251 9.16 TAF1L TAF1
3 TBP-class protein binding GO:0017025 8.96 TAF1L TAF1
4 lysine-acetylated histone binding GO:0070577 8.62 TAF1L TAF1

Sources for Segmental Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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