EOTD
MCID: ERL030
MIFTS: 32

Early-Onset Generalized Limb-Onset Dystonia (EOTD)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early-Onset Generalized Limb-Onset Dystonia

MalaCards integrated aliases for Early-Onset Generalized Limb-Onset Dystonia:

Name: Early-Onset Generalized Limb-Onset Dystonia 58
Dystonia Musculorum Deformans 58 70
Early-Onset Generalized Torsion Dystonia 58
Dystonia 1, Torsion, Autosomal Dominant 70
Dystonia 3, Torsion, X-Linked 70
Early-Onset Isolated Dystonia 58
Early-Onset Torsion Dystonia 58
Early Onset Torsion Dystonia 70
Early-Onset Primary Dystonia 58
Idiopathic Torsion Dystonia 58
Oppenheim Dystonia 58
Eotd 58

Characteristics:

Orphanet epidemiological data:

58
early-onset generalized limb-onset dystonia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe),1-9/100000 (United States); Age of onset: Adolescent,Adult,Childhood; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G24.1
UMLS via Orphanet 71 C0013423 C1851945 C3888090
Orphanet 58 ORPHA256
SNOMED-CT via HPO 68 22325002 41581000 56731001
UMLS 70 C0013423 C1839130 C1851945 more

Summaries for Early-Onset Generalized Limb-Onset Dystonia

MalaCards based summary : Early-Onset Generalized Limb-Onset Dystonia, also known as dystonia musculorum deformans, is related to dystonia 1, torsion, autosomal dominant and dystonia 2, torsion, autosomal recessive, and has symptoms including tremor, myoclonus and dystonia. An important gene associated with Early-Onset Generalized Limb-Onset Dystonia is TOR1A (Torsin Family 1 Member A). Affiliated tissues include globus pallidus and hypothalamus, and related phenotypes are gait disturbance and hypertonia

Related Diseases for Early-Onset Generalized Limb-Onset Dystonia

Diseases related to Early-Onset Generalized Limb-Onset Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 11.8
2 dystonia 2, torsion, autosomal recessive 11.6
3 dystonia 4, torsion, autosomal dominant 11.6
4 dyt1 early-onset isolated dystonia 11.5
5 dystonia 12 11.5
6 dystonia 3, torsion, x-linked 11.5
7 dystonia 6, torsion 11.3
8 dyt-thap1 11.3
9 dystonia 7, torsion 11.2
10 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 11.2
11 dystonia 10.7
12 cerebral palsy 10.5
13 movement disease 10.4
14 isolated dystonia 10.4
15 torticollis 10.3
16 cervical dystonia 10.3
17 blepharospasm 10.3
18 dystonia 27 10.2
19 segmental dystonia 10.2
20 tremor 10.2
21 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
22 retinitis pigmentosa 10.2
23 basal ganglia calcification 10.2
24 neuroretinitis 10.2
25 clubfoot 10.2
26 retinitis 10.2
27 piriformis syndrome 10.2
28 head injury 10.2
29 anencephaly 10.1
30 focal dystonia 10.1
31 hereditary dystonia 10.1
32 rare movement disorder 10.1
33 carpal tunnel syndrome 10.0
34 dyschromatosis symmetrica hereditaria 10.0
35 dystonia 11, myoclonic 10.0
36 schizophrenia 10.0
37 tremor, hereditary essential, 1 10.0
38 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
39 graves disease 1 10.0
40 xeroderma pigmentosum, variant type 10.0
41 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
42 dystonia 25 10.0
43 autosomal recessive disease 10.0
44 multifocal dystonia 10.0
45 oromandibular dystonia 10.0
46 stuttering 10.0
47 scoliosis 10.0
48 parkinsonism 10.0
49 tic disorder 10.0
50 essential tremor 10.0

Comorbidity relations with Early-Onset Generalized Limb-Onset Dystonia via Phenotypic Disease Network (PDN):


Acute Cystitis Parkinson Disease, Late-Onset

Graphical network of the top 20 diseases related to Early-Onset Generalized Limb-Onset Dystonia:



Diseases related to Early-Onset Generalized Limb-Onset Dystonia

Symptoms & Phenotypes for Early-Onset Generalized Limb-Onset Dystonia

Human phenotypes related to Early-Onset Generalized Limb-Onset Dystonia:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
3 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
4 abnormality of movement 58 Very frequent (99-80%)
5 abnormality of the musculature 58 Very frequent (99-80%)

UMLS symptoms related to Early-Onset Generalized Limb-Onset Dystonia:


tremor; myoclonus; dystonia; torticollis; dystonia, paroxysmal; dystonia, limb

Drugs & Therapeutics for Early-Onset Generalized Limb-Onset Dystonia

Search Clinical Trials , NIH Clinical Center for Early-Onset Generalized Limb-Onset Dystonia

Genetic Tests for Early-Onset Generalized Limb-Onset Dystonia

Anatomical Context for Early-Onset Generalized Limb-Onset Dystonia

MalaCards organs/tissues related to Early-Onset Generalized Limb-Onset Dystonia:

40
Globus Pallidus, Hypothalamus

Publications for Early-Onset Generalized Limb-Onset Dystonia

Articles related to Early-Onset Generalized Limb-Onset Dystonia:

(show top 50) (show all 155)
# Title Authors PMID Year
1
A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese. 6
28432771 2017
2
Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11. 6
28102337 2017
3
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia. 6
27939583 2016
4
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia. 6
27490483 2016
5
Clinical and genetic features of cervical dystonia in a large multicenter cohort. 6
27123488 2016
6
Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia. 6
26183317 2015
7
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. 6
25403864 2014
8
Negative allosteric modulation of mGlu5 receptor rescues striatal D2 dopamine receptor dysfunction in rodent models of DYT1 dystonia. 6
24951854 2014
9
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. 6
24930953 2014
10
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. 6
24931141 2014
11
Atypical phenotypes of DYT1 dystonia in three children. 6
22770546 2013
12
DYT-1 gene dystonic tremor presenting as a "scan without evidence of dopaminergic deficit". 6
22976004 2012
13
The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia. 6
22226333 2012
14
Genetic and clinical features of primary torsion dystonia. 6
21168499 2011
15
Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. 6
19651773 2009
16
LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. 6
19339278 2009
17
Consequences of the DYT1 mutation on torsinA oligomerization and degradation. 6
18940237 2008
18
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). 6
18477710 2008
19
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. 6
17503336 2007
20
Stiff child syndrome with mutation of DYT1 gene. 6
16682692 2006
21
Stiff child syndrome with mutation of DYT1 gene. 6
16275837 2005
22
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. 6
15505207 2004
23
TorsinA in the nuclear envelope. 6
15136718 2004
24
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. 6
14711988 2004
25
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. 6
12975293 2003
26
Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene. 6
12481989 2002
27
Inherited and de novo mutations in sporadic cases of DYT1-dystonia. 6
11973627 2002
28
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. 6
10814722 2000
29
A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. 6
10541594 1999
30
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. 6
10435508 1999
31
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. 6
10627938 1999
32
The molecular genetics of the dystonias. 6
9576529 1998
33
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 6
9288096 1997
34
Early Illustrations of Geste Antagoniste in Cervical and Generalized Dystonia. 61
26417535 2015
35
Fat embolism syndrome in a child with dystonia musculorum deformans. 61
22604515 2012
36
Genetics and pharmacological treatment of dystonia. 61
21907099 2011
37
Deep brain stimulation for dystonia: a meta-analysis. 61
22151759 2006
38
Piriformis muscle syndrome. 61
17385355 2006
39
[Some pathophysiological mechanisms of muscular tone impairment]. 61
15568498 2004
40
Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans: case report with surgical management. 61
11598522 2001
41
Irving S. Cooper and the early surgical management of movement disorders. Video history. 61
16602679 2001
42
Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus. 61
10881900 2000
43
Functional recovery after bilateral pallidotomy for the treatment of early-onset primary generalized dystonia. 61
10527098 1999
44
[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case]. 61
10448655 1999
45
[Recessive dopa-responsive form of dystonia due to a mutation of the tyrosine hydroxylase gene]. 61
10437291 1999
46
[Roles of the basal ganglia outputs in movement disorders: a viewpoint based on experiences of stereotactic surgery for idiopathic dystonia]. 61
9146025 1997
47
Simultaneous bilateral pallidoansotomy for idiopathic dystonia musculorum deformans. 61
8703227 1996
48
[The surgical treatment of muscle tonus disorders by the destruction of the input areas of the posterior spinal nerve roots]. 61
7856369 1994
49
[EEG and polysomnography findings in patients with dyskinesia]. 61
8277565 1993
50
Relationship between acquired spastic talipes equinovarus and dystonia musculorum deformans. 61
8416347 1993

Variations for Early-Onset Generalized Limb-Onset Dystonia

ClinVar genetic disease variations for Early-Onset Generalized Limb-Onset Dystonia:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TOR1A NM_000113.3(TOR1A):c.907_909delGAG (p.Glu303del) Microsatellite Pathogenic/Likely pathogenic 5180 rs80358233 GRCh37: 9:132576341-132576343
GRCh38: 9:129814062-129814064
2 TOR1A NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) SNV Likely pathogenic 559927 rs760768475 GRCh37: 9:132576388-132576388
GRCh38: 9:129814109-129814109
3 TOR1A NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) SNV Conflicting interpretations of pathogenicity 162491 rs727502811 GRCh37: 9:132576387-132576387
GRCh38: 9:129814108-129814108
4 TOR1A NM_000113.3(TOR1A):c.385G>A (p.Val129Ile) SNV Uncertain significance 268214 rs529094238 GRCh37: 9:132584919-132584919
GRCh38: 9:129822640-129822640
5 TOR1A NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) SNV Uncertain significance 18438 rs267607134 GRCh37: 9:132581031-132581031
GRCh38: 9:129818752-129818752
6 TOR1A NM_000113.3(TOR1A):c.581A>T (p.Asp194Val) SNV Uncertain significance 268215 rs886041099 GRCh37: 9:132581063-132581063
GRCh38: 9:129818784-129818784
7 TOR1A NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys) SNV Uncertain significance 268213 rs199535970 GRCh37: 9:132584943-132584943
GRCh38: 9:129822664-129822664
8 TOR1A NM_000113.3(TOR1A):c.40_45del (p.Ala14_Pro15del) Deletion Uncertain significance 268212 rs886041098 GRCh37: 9:132586320-132586325
GRCh38: 9:129824041-129824046
9 TOR1A NM_000113.3(TOR1A):c.620+3A>T SNV Uncertain significance 1028074 GRCh37: 9:132581021-132581021
GRCh38: 9:129818742-129818742
10 TOR1A NM_000113.3(TOR1A):c.*201G>A SNV Uncertain significance 912676 GRCh37: 9:132576050-132576050
GRCh38: 9:129813771-129813771
11 TOR1A NM_000113.3(TOR1A):c.300G>A (p.Leu100=) SNV Uncertain significance 365233 rs773480738 GRCh37: 9:132585004-132585004
GRCh38: 9:129822725-129822725
12 TOR1A NM_000113.3(TOR1A):c.707T>C (p.Ile236Thr) SNV Uncertain significance 914176 GRCh37: 9:132580840-132580840
GRCh38: 9:129818561-129818561
13 TOR1A NM_000113.3(TOR1A):c.506T>C (p.Phe169Ser) SNV Uncertain significance 816839 rs1588216830 GRCh37: 9:132581138-132581138
GRCh38: 9:129818859-129818859
14 TOR1A NM_000113.3(TOR1A):c.932_933AG[1] (p.Arg312fs) Microsatellite Uncertain significance 21053 rs80358234 GRCh37: 9:132576313-132576316
GRCh38: 9:129814034-129814037
15 TOR1A NM_000113.3(TOR1A):c.966_983del (p.Phe323_Tyr328del) Deletion Uncertain significance 5181 rs80358235 GRCh37: 9:132576267-132576284
GRCh38: 9:129813988-129814005
16 TOR1A NM_000113.3(TOR1A):c.369T>C (p.Gly123=) SNV Uncertain significance 914177 GRCh37: 9:132584935-132584935
GRCh38: 9:129822656-129822656
17 TOR1A NM_000113.3(TOR1A):c.*879C>A SNV Uncertain significance 914638 GRCh37: 9:132575372-132575372
GRCh38: 9:129813093-129813093
18 TOR1A NM_000113.3(TOR1A):c.*832G>A SNV Uncertain significance 914639 GRCh37: 9:132575419-132575419
GRCh38: 9:129813140-129813140
19 TOR1A NM_000113.3(TOR1A):c.*1010A>G SNV Uncertain significance 365210 rs886063518 GRCh37: 9:132575241-132575241
GRCh38: 9:129812962-129812962
20 TOR1A NM_000113.3(TOR1A):c.*934A>G SNV Uncertain significance 365213 rs760680759 GRCh37: 9:132575317-132575317
GRCh38: 9:129813038-129813038
21 TOR1A NM_000113.3(TOR1A):c.*216C>T SNV Uncertain significance 365227 rs886063522 GRCh37: 9:132576035-132576035
GRCh38: 9:129813756-129813756
22 TOR1A NM_000113.3(TOR1A):c.*165G>A SNV Uncertain significance 365230 rs886063523 GRCh37: 9:132576086-132576086
GRCh38: 9:129813807-129813807
23 TOR1A NM_000113.3(TOR1A):c.*623C>T SNV Uncertain significance 365219 rs886063520 GRCh37: 9:132575628-132575628
GRCh38: 9:129813349-129813349
24 TOR1A NM_000113.3(TOR1A):c.-31C>A SNV Uncertain significance 365236 rs367933546 GRCh37: 9:132586395-132586395
GRCh38: 9:129824116-129824116
25 TOR1A NM_000113.3(TOR1A):c.*895_*897ATT[1] Microsatellite Uncertain significance 365214 rs552432262 GRCh37: 9:132575351-132575353
GRCh38: 9:129813072-129813074
26 TOR1A NM_000113.3(TOR1A):c.*149G>A SNV Uncertain significance 365231 rs886063524 GRCh37: 9:132576102-132576102
GRCh38: 9:129813823-129813823
27 TOR1A NM_000113.3(TOR1A):c.*812C>G SNV Uncertain significance 365217 rs886063519 GRCh37: 9:132575439-132575439
GRCh38: 9:129813160-129813160
28 TOR1A NM_000113.3(TOR1A):c.*345C>T SNV Uncertain significance 365226 rs886063521 GRCh37: 9:132575906-132575906
GRCh38: 9:129813627-129813627
29 TOR1A NM_000113.3(TOR1A):c.-4G>C SNV Uncertain significance 365235 rs769210407 GRCh37: 9:132586368-132586368
GRCh38: 9:129824089-129824089
30 TOR1A NM_000113.3(TOR1A):c.*785G>A SNV Uncertain significance 365218 rs147959623 GRCh37: 9:132575466-132575466
GRCh38: 9:129813187-129813187
31 TOR1A NM_000113.3(TOR1A):c.*165G>T SNV Uncertain significance 913780 GRCh37: 9:132576086-132576086
GRCh38: 9:129813807-129813807
32 TOR1A NM_000113.3(TOR1A):c.*108G>C SNV Uncertain significance 913781 GRCh37: 9:132576143-132576143
GRCh38: 9:129813864-129813864
33 TOR1A NM_000113.3(TOR1A):c.962C>T (p.Thr321Met) SNV Uncertain significance 913782 GRCh37: 9:132576288-132576288
GRCh38: 9:129814009-129814009
34 TOR1A NM_000113.3(TOR1A):c.823A>G (p.Lys275Glu) SNV Uncertain significance 695773 rs148036363 GRCh37: 9:132576427-132576427
GRCh38: 9:129814148-129814148
35 TOR1A NM_000113.3(TOR1A):c.*997G>A SNV Uncertain significance 914134 GRCh37: 9:132575254-132575254
GRCh38: 9:129812975-129812975
36 TOR1A NM_000113.3(TOR1A):c.*112G>C SNV Likely benign 365232 rs75881350 GRCh37: 9:132576139-132576139
GRCh38: 9:129813860-129813860
37 TOR1A NM_000113.3(TOR1A):c.26G>C (p.Gly9Ala) SNV Likely benign 365234 rs200493208 GRCh37: 9:132586339-132586339
GRCh38: 9:129824060-129824060
38 TOR1A NM_000113.3(TOR1A):c.*415_*416insG Insertion Likely benign 365222 rs60745320 GRCh37: 9:132575835-132575836
GRCh38: 9:129813556-129813557
39 TOR1A NM_000113.3(TOR1A):c.*824del Deletion Likely benign 365216 rs3842225 GRCh37: 9:132575427-132575427
GRCh38: 9:129813148-129813148
40 TOR1A NM_000113.3(TOR1A):c.*423del Deletion Likely benign 365221 rs573629050 GRCh37: 9:132575828-132575828
GRCh38: 9:129813549-129813549
41 TOR1A NM_000113.2(TOR1A):c.-52T>G SNV Likely benign 365238 rs114150156 GRCh37: 9:132586416-132586416
GRCh38: 9:129824137-129824137
42 TOR1A NM_000113.3(TOR1A):c.*414del Deletion Likely benign 365224 rs35153737 GRCh37: 9:132575837-132575837
GRCh38: 9:129813558-129813558
43 TOR1A NM_000113.3(TOR1A):c.*930T>A SNV Likely benign 914637 GRCh37: 9:132575321-132575321
GRCh38: 9:129813042-129813042
44 TOR1A NM_000113.3(TOR1A):c.561C>T (p.Leu187=) SNV Likely benign 695881 rs115847158 GRCh37: 9:132581083-132581083
GRCh38: 9:129818804-129818804
45 TOR1A NM_000113.3(TOR1A):c.748+10G>A SNV Likely benign 914175 GRCh37: 9:132580789-132580789
GRCh38: 9:129818510-129818510
46 TOR1A NM_000113.3(TOR1A):c.*193G>A SNV Likely benign 912677 GRCh37: 9:132576058-132576058
GRCh38: 9:129813779-129813779
47 TOR1A NM_000113.3(TOR1A):c.488C>T (p.Ala163Val) SNV Benign 408885 rs142909469 GRCh37: 9:132581156-132581156
GRCh38: 9:129818877-129818877
48 TOR1A NM_000113.3(TOR1A):c.646G>C (p.Asp216His) SNV Benign 5182 rs1801968 GRCh37: 9:132580901-132580901
GRCh38: 9:129818622-129818622
49 TOR1A NM_000113.3(TOR1A):c.246C>T (p.Ala82=) SNV Benign 255134 rs2296793 GRCh37: 9:132585058-132585058
GRCh38: 9:129822779-129822779
50 TOR1A NM_000113.3(TOR1A):c.749-11C>A SNV Benign 255137 rs72755217 GRCh37: 9:132576512-132576512
GRCh38: 9:129814233-129814233

Expression for Early-Onset Generalized Limb-Onset Dystonia

Search GEO for disease gene expression data for Early-Onset Generalized Limb-Onset Dystonia.

Pathways for Early-Onset Generalized Limb-Onset Dystonia

GO Terms for Early-Onset Generalized Limb-Onset Dystonia

Sources for Early-Onset Generalized Limb-Onset Dystonia

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