MCID: CMB094
MIFTS: 14

Combined Dystonia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Dystonia

MalaCards integrated aliases for Combined Dystonia:

Name: Combined Dystonia 58
Dystonia-Plus Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G24.1
Orphanet 58 ORPHA98203

Summaries for Combined Dystonia

MalaCards based summary : Combined Dystonia, also known as dystonia-plus syndrome, is related to persistent combined dystonia and dystonia. Affiliated tissues include brain, testes and globus pallidus.

Related Diseases for Combined Dystonia

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



Diseases related to Combined Dystonia

Symptoms & Phenotypes for Combined Dystonia

Drugs & Therapeutics for Combined Dystonia

Search Clinical Trials , NIH Clinical Center for Combined Dystonia

Genetic Tests for Combined Dystonia

Anatomical Context for Combined Dystonia

MalaCards organs/tissues related to Combined Dystonia:

40
Brain, Testes, Globus Pallidus

Publications for Combined Dystonia

Articles related to Combined Dystonia:

(show all 34)
# Title Authors PMID Year
1
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism. 61
31922365 2020
2
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. 61
31628766 2020
3
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. 61
31731261 2019
4
Pharyngeal Dystonia Misdiagnosed as Cricopharyngeal Dysphagia Successfully Treated by Pharmacotherapy. 61
31918534 2019
5
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. 61
30897263 2019
6
Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I). 61
30771723 2019
7
Combined Dystonia With Self-Mutilation in 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: A Case Report. 61
30746422 2019
8
Dystonia. 61
30237473 2018
9
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease. 61
29653907 2018
10
Pediatric Deep Brain Stimulation Using Awake Recording and Stimulation for Target Selection in an Inpatient Neuromodulation Monitoring Unit. 61
30018276 2018
11
Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations. 61
30363085 2017
12
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. 61
27666935 2017
13
Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia. 61
28323682 2017
14
Diagnosis and Management of Dystonia. 61
27495206 2016
15
The role of mutations in COL6A3 in isolated dystonia. 61
26872670 2016
16
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited. 61
26297380 2015
17
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. 61
25643588 2015
18
Dystonia: an update on phenomenology, classification, pathogenesis and treatment. 61
24978640 2014
19
Dystonia. 61
24092288 2013
20
Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. 61
23893445 2013
21
A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype. 61
22026499 2012
22
[Hereditary dystonia -- phenotype of DYT1]. 61
23196519 2012
23
Overview of primary monogenic dystonia. 61
22166420 2012
24
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. 61
20425829 2010
25
Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp. 61
18702114 2008
26
Large deletions account for an increasing number of mutations in SGCE. 61
18098280 2008
27
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. 61
18651096 2008
28
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. 61
17898012 2007
29
Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia. 61
17216649 2007
30
Autosomal dominant dystonia-plus with cerebral calcifications. 61
16924015 2006
31
DOPA-sensitive dystonia-plus syndrome. 61
15739726 2005
32
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? 61
11835466 2002
33
Dystonia: recent advances. 61
10833562 1999
34
Rapid-onset dystonia-parkinsonism in a second family. 61
9109901 1997

Variations for Combined Dystonia

Expression for Combined Dystonia

Search GEO for disease gene expression data for Combined Dystonia.

Pathways for Combined Dystonia

GO Terms for Combined Dystonia

Sources for Combined 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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