MCID: LMB012
MIFTS: 26

Limb Dystonia malady

Rare diseases, Neuronal diseases categories
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Summaries for Limb Dystonia

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NIH Rare Diseases:42 Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. the arm or leg might also be involved. specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed. common examples of limb dystonia include writer's cramp and musician's dystonia. in most cases, the cause of limb dystonia remains unknown. treatment is challenging. botulinum toxin injection, oral medications, and physical therapy may help some patients. last updated: 8/31/2014

MalaCards based summary: Limb Dystonia, also known as dystonia disorders, is related to blepharospasm and dystonia, and has symptoms including 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:46 611284

Aliases & Classifications for Limb Dystonia

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
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Limb Dystonia, Aliases & Descriptions:

Name: Limb Dystonia 42 48 46
 
Dystonia Disorders 62


Classifications:

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


External Ids:

OMIM46 611284
ICD10 via Orphanet26 G24.8

Related Diseases for Limb Dystonia

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1blepharospasm30.2TOR1A
2dystonia10.7
3progressive supranuclear palsy10.2
4cervicitis10.2
5hepatitis10.0
6parkinson's disease10.0
7temporal lobe epilepsy10.0
8langerhans-cell histiocytosis10.0
9hepatic encephalopathy10.0
10histiocytosis10.0
11x-linked dystonia-parkinsonism10.0
12benign hereditary chorea10.0
13focal dystonia9.9TOR1A, TIMM8A

Graphical network of diseases related to Limb Dystonia:



Diseases related to limb dystonia

Symptoms for Limb Dystonia

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Symptoms by clinical synopsis from OMIM:

611284

Clinical features from OMIM:

611284

HPO human phenotypes related to Limb Dystonia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 writer's cramp HP:0002356
3 adult onset HP:0003581

Drugs & Therapeutics for Limb Dystonia

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Drug clinical trials:

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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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MalaCards organs/tissues related to Limb Dystonia:

32
Temporal lobe

Animal Models for Limb Dystonia or affiliated genes

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Publications for Limb Dystonia

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Articles related to Limb Dystonia:

(show all 27)
idTitleAuthorsYear
1
Isolated limb dystonia as presenting feature of Parkin disease. (24659796)
2014
2
Levodopa Responsiveness in Adult-onset Lower Limb Dystonia is Associated with the Development of Parkinson's Disease. (23610745)
2013
3
Psychogenic tetraparesis and bilateral upper limb dystonia, regressive under short propofol-induced sedation and during hepatic encephalopathy. (22902089)
2012
4
Drummer's lower limb dystonia. (22160433)
2012
5
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
6
Successful bilateral pallidal stimulation in a patient with isolated lower limb dystonia coexistent with Langerhans cell histiocytosis and coeliac disease. (22127949)
2011
7
Focal limb dystonia. (20590804)
2010
8
Clinical improvement of secondary focal limb dystonia in neurodegenerative disease following a five-day lidocaine infusion: a case report. (19013587)
2009
9
Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. (17534980)
2007
10
Restoring balance in focal limb dystonia with botulinum toxin. (18033603)
2007
11
Adult-onset primary lower limb dystonia. (16456826)
2006
12
Patterns of EMG-EMG coherence in limb dystonia. (15254933)
2004
13
Does sex influence age at onset in cranial-cervical and upper limb dystonia? (12531967)
2003
14
Ictal limb dystonia in temporal lobe epilepsy. an invasive video-EEG finding. (14641508)
2003
15
Progressive supranuclear palsy with asymmetric tau pathology presenting with unilateral limb dystonia. (12111365)
2002
16
Accuracy of muscle localization without EMG: implications for treatment of limb dystonia. (11889247)
2002
17
Focal limb dystonia in a patient with a cerebellar mass. (11448302)
2001
18
Posthemiplegic focal limb dystonia: a report of two cases. (9637205)
1998
19
Delayed onset limb dystonia following electric injury. (18591086)
1998
20
An aggressive approach to limb dystonia: a case report. (9596405)
1998
21
Abnormal motor unit synchronization of antagonist muscles underlies pathological co-contraction in upper limb dystonia. (9619186)
1998
22
Treatment of upper limb dystonia with botulinum toxin. (18638853)
1996
23
Upper-limb dystonia secondary to a midbrain hemorrhage. (8771076)
1996
24
Physiological effects produced by botulinum toxin treatment of upper limb dystonia. Changes in reciprocal inhibition between forearm muscles. (7600096)
1995
25
Bilateral limb dystonia due to chronic subdural hematoma. (2209675)
1990
26
Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux. (3425612)
1987
27
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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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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Sources:
44Novoseek
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Compounds related to Limb Dystonia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine449.1TOR1A, 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
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Sources for Limb Dystonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet