MCID: LMB012
MIFTS: 25

Limb Dystonia malady

Rare diseases, Neuronal diseases categories
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Summaries for Limb Dystonia

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47OMIM, 33MalaCards
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MalaCards: Limb Dystonia, also known as dystonia disorders, is related to blepharospasm and dystonia. An important gene associated with Limb Dystonia is TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast)). The compound tyrosine have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe.

Description from OMIM:47 611284

Aliases & Classifications for Limb Dystonia

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Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

limb dystonia 43 49 47
dystonia disorders 62


External Ids:

OMIM47 611284
ICD10 via Orphanet26 G24.8

Related Diseases for Limb Dystonia

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17GeneCards, 18GeneDecks
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Diseases related to Limb Dystonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1blepharospasm30.0TOR1A
2dystonia10.7
3progressive supranuclear palsy10.2
4cervicitis10.2
5langerhans-cell histiocytosis10.0
6temporal lobe epilepsy10.0
7parkinson's disease10.0
8hepatic encephalopathy10.0
9hepatitis10.0
10histiocytosis10.0
11x-linked dystonia-parkinsonism10.0
12focal dystonia10.0TOR1A, TIMM8A

Graphical network of diseases related to Limb Dystonia:



Diseases related to limb dystonia

Symptoms for Limb Dystonia

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47OMIM
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Symptoms by clinical synopsis from OMIM:

611284

Clinical features from OMIM:

611284

Drugs & Therapeutics for Limb Dystonia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Limb Dystonia

Search NIH Clinical Center for Limb Dystonia

Genetic Tests for Limb Dystonia

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Anatomical Context for Limb Dystonia

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33MalaCards
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MalaCards organs/tissues related to Limb Dystonia:

33
Temporal lobe

Animal Models for Limb Dystonia or affiliated genes

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Publications for Limb Dystonia

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52PubMed
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Articles related to Limb Dystonia:

(show all 26)
idTitleAuthorsYear
1
Levodopa Responsiveness in Adult-onset Lower Limb Dystonia is Associated with the Development of Parkinson's Disease. (23610745)
2013
2
Psychogenic tetraparesis and bilateral upper limb dystonia, regressive under short propofol-induced sedation and during hepatic encephalopathy. (22902089)
2012
3
Drummer's lower limb dystonia. (22160433)
2012
4
The broadening application of chemodenervation in X-linked dystonia-parkinsonism (Part I): muscle afferent block versus botulinum toxin-A in cervical and limb dystonias. (21244305)
2011
5
Successful bilateral pallidal stimulation in a patient with isolated lower limb dystonia coexistent with Langerhans cell histiocytosis and coeliac disease. (22127949)
2011
6
Focal limb dystonia. (20590804)
2010
7
Clinical improvement of secondary focal limb dystonia in neurodegenerative disease following a five-day lidocaine infusion: a case report. (19013587)
2009
8
Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. (17534980)
2007
9
Restoring balance in focal limb dystonia with botulinum toxin. (18033603)
2007
10
Adult-onset primary lower limb dystonia. (16456826)
2006
11
Patterns of EMG-EMG coherence in limb dystonia. (15254933)
2004
12
Does sex influence age at onset in cranial-cervical and upper limb dystonia? (12531967)
2003
13
Ictal limb dystonia in temporal lobe epilepsy. an invasive video-EEG finding. (14641508)
2003
14
Progressive supranuclear palsy with asymmetric tau pathology presenting with unilateral limb dystonia. (12111365)
2002
15
Accuracy of muscle localization without EMG: implications for treatment of limb dystonia. (11889247)
2002
16
Focal limb dystonia in a patient with a cerebellar mass. (11448302)
2001
17
Posthemiplegic focal limb dystonia: a report of two cases. (9637205)
1998
18
Delayed onset limb dystonia following electric injury. (18591086)
1998
19
An aggressive approach to limb dystonia: a case report. (9596405)
1998
20
Abnormal motor unit synchronization of antagonist muscles underlies pathological co-contraction in upper limb dystonia. (9619186)
1998
21
Treatment of upper limb dystonia with botulinum toxin. (18638853)
1996
22
Upper-limb dystonia secondary to a midbrain hemorrhage. (8771076)
1996
23
Physiological effects produced by botulinum toxin treatment of upper limb dystonia. Changes in reciprocal inhibition between forearm muscles. (7600096)
1995
24
Bilateral limb dystonia due to chronic subdural hematoma. (2209675)
1990
25
Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux. (3425612)
1987
26
Limb dystonia in progressive supranuclear palsy. (3627456)
1987

Variations for Limb Dystonia

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Expression for genes affiliated with Limb Dystonia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb Dystonia

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Pathways for genes affiliated with Limb Dystonia

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Compounds for genes affiliated with Limb Dystonia

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45Novoseek
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Compounds related to Limb Dystonia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine459.1TOR1A, TIMM8A

GO Terms for genes affiliated with Limb Dystonia

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Products for genes affiliated with Limb Dystonia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb Dystonia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet