DYT1
MCID: DYT006
MIFTS: 32

Dyt-Tor1a (DYT1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dyt-Tor1a

MalaCards integrated aliases for Dyt-Tor1a:

Name: Dyt-Tor1a 53
Dystonia 1 53 29 6
Dystonia Musculorum Deformans 1 53 25
Early-Onset Primary Dystonia 53 25
Oppenheim's Dystonia 53 25
Dyt1 53 25
Early-Onset Generalized Torsion Dystonia 25
Dystonia 1, Torsion, Autosomal Dominant 53
Dyt1 Early-Onset Isolated Dystonia 53
Early-Onset Generalized Dystonia 53
Early-Onset Torsion Dystonia 53
Early Onset Torsion Dystonia 53
Idiopathic Torsion Dystonia 53
Idiopathic Dystonia Dyt1 53
Primary Torsion Dystonia 25
Dyt-Tor1a Dystonia 53
Oppenheim Dystonia 25
Eotd 53

Classifications:



Summaries for Dyt-Tor1a

Genetics Home Reference : 25 Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence. On average, the signs and symptoms of early-onset primary dystonia appear around age 12. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or walking. In some affected people, dystonia later spreads to other parts of the body and may occur at rest. The abnormal movements persist throughout life, but they do not usually cause pain. The signs and symptoms of early-onset primary dystonia vary from person to person, even among affected members of the same family. The mildest cases affect only a single part of the body, causing isolated problems such as a writer's cramp in the hand. Severe cases involve abnormal movements affecting many regions of the body.

MalaCards based summary : Dyt-Tor1a, also known as dystonia 1, is related to dystonia 1, torsion, autosomal dominant and hypermanganesemia with dystonia 1, and has symptoms including tremor and torticollis. An important gene associated with Dyt-Tor1a is TOR1A (Torsin Family 1 Member A). The drugs abobotulinumtoxinA and Neuromuscular Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and globus pallidus.

NIH Rare Diseases : 53 Early-onset generalized dystonia is a neurologic movement disorder that usually begins in childhood or adolescence. This is the most common hereditary form of dystonia. Symptoms start in one part of the body (usually an arm, foot, or leg) and are usually first apparent with actions such as writing or walking. With time, the contractions may spread to other parts of the body, causing the muscles to twist the body into unnatural positions. Symptoms can vary greatly, even among members of the same family. For some, the disorder can cause significant disability, while others may experiences only isolated writer's cramp. A small deletion in the DYT1 gene is the major cause of early-onset dystonia. The genetic change responsible for early onset generalized dystonia is inherited in an autosomal dominant manner, though not everyone who inherits the genetic change will develop the condition. It is thought that only 30% of individuals who inherit the mutation will develop DYT1 dystonia. This is known as reduced penetrance . Treatments include oral medications such as trihexyphenidyl, baclofen, and clonazepam. Botulinum toxin injections may be used in conjunction with oral medications when symptoms are focused in a certain area. In some cases, deep brain stimulation may be indicated.

Related Diseases for Dyt-Tor1a

Diseases related to Dyt-Tor1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 12.8
2 hypermanganesemia with dystonia 1 12.5
3 dyt1 early-onset isolated dystonia 12.4
4 dystonia 13, torsion, autosomal dominant 11.8
5 dystonia 7, torsion 11.8
6 early-onset generalized limb-onset dystonia 11.5
7 obsolete: autosomal dominant focal dystonia, dyt7 type 11.5
8 hypermanganesemia with dystonia 11.0
9 movement disease 10.6
10 focal dystonia 10.6
11 segmental dystonia 10.5
12 hereditary dystonia 10.5
13 tremor 10.5
14 cervical dystonia 10.4
15 dystonia 6, torsion 10.4
16 dyt-thap1 10.4
17 myoclonus 10.4
18 dystonia 10.3
19 multifocal dystonia 10.2
20 focal hand dystonia 10.2
21 isolated dystonia 10.2
22 spasmodic dysphonia 10.2
23 obsolete: laryngeal dyskinesia 10.2
24 dystonia 2, torsion, autosomal recessive 10.2
25 dystonia 11, myoclonic 10.1
26 parkinson disease, late-onset 10.1
27 torticollis 10.1
28 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
29 combined dystonia 10.1
30 dystonia 17, torsion, autosomal recessive 10.1
31 anencephaly 10.1
32 rare movement disorder 10.1
33 carpal tunnel syndrome 10.0
34 dyschromatosis symmetrica hereditaria 10.0
35 tremor, hereditary essential, 1 10.0
36 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
37 graves disease 1 10.0
38 xeroderma pigmentosum, variant type 10.0
39 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
40 dystonia 25 10.0
41 autosomal recessive disease 10.0
42 oromandibular dystonia 10.0
43 stuttering 10.0
44 scoliosis 10.0
45 tic disorder 10.0
46 essential tremor 10.0
47 hypertonia 10.0
48 posttransplant acute limbic encephalitis 10.0
49 huntington disease 10.0
50 obsessive-compulsive disorder 10.0

Graphical network of the top 20 diseases related to Dyt-Tor1a:



Diseases related to Dyt-Tor1a

Symptoms & Phenotypes for Dyt-Tor1a

UMLS symptoms related to Dyt-Tor1a:


tremor, torticollis

Drugs & Therapeutics for Dyt-Tor1a

Drugs for Dyt-Tor1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 abobotulinumtoxinA Phase 4
2 Neuromuscular Agents Phase 4
3 Peripheral Nervous System Agents Phase 4
4 Acetylcholine Release Inhibitors Phase 4
5 rimabotulinumtoxinB Phase 4
6 Botulinum Toxins Phase 4
7 Botulinum Toxins, Type A Phase 4
8
Trihexyphenidyl Approved 144-11-6, 58947-95-8 5572
9
Acetylcholine Approved, Investigational 51-84-3 187
10
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
11 Muscarinic Antagonists
12 Cholinergic Antagonists
13 Antiparkinson Agents
14 Neurotransmitter Agents
15 Cholinergic Agents
16 Micronutrients
17 Nutrients
18 Trace Elements

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
2 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
3 Novel Stimulation Patterns and Personalized Deep Brain Stimulation for the Treatment of Dystonia Completed NCT02468843
4 Can Short Latency Afferent Inhibition Give us Clues to Better Dystonia Treatments? Completed NCT01435681
5 Neuroimaging of Dystonia: The Bachmann-Strauss Dystonia and Parkinson Disease Center of Excellence at the University of Florida Completed NCT02046447 Primary Cervical Dystonia (Trihexyphenidyl)
6 Neurophysiological Studies of Focal and Generalized Forms of Dystonia Using Transcranial Magnetic Stimulation (TMS) Completed NCT00017875
7 Role of the Striatal Cholinergic System in the Pathophysiology of Dystonia Completed NCT02727361
8 Repetitive Transcranial Magnetic Stimulation in Spasmodic Dysphonia Completed NCT02957942
9 Cholinergic Receptor Imaging in Dystonia Recruiting NCT02689466
10 Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias Not yet recruiting NCT03481491
11 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114

Search NIH Clinical Center for Dyt-Tor1a

Genetic Tests for Dyt-Tor1a

Genetic tests related to Dyt-Tor1a:

# Genetic test Affiliating Genes
1 Dystonia 1 29 TOR1A

Anatomical Context for Dyt-Tor1a

MalaCards organs/tissues related to Dyt-Tor1a:

41
Brain, Cerebellum, Globus Pallidus, Thalamus

Publications for Dyt-Tor1a

Articles related to Dyt-Tor1a:

(show all 47)
# Title Authors PMID Year
1
Dystonia as complication of thalamic neurosurgery. 38
31434632 2019
2
Missense mutations in DYT-TOR1A dystonia. 38
31321303 2019
3
Genetic Disorders of Manganese Metabolism. 38
31089831 2019
4
Dystonia-4 (DYT4)-associated TUBB4A mutants exhibit disorganized microtubule networks and inhibit neuronal process growth. 38
29127012 2018
5
Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. 38
29219190 2018
6
Inherited dystonias: clinical features and molecular pathways. 38
29325615 2018
7
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor. 38
29053766 2017
8
Constant-Current Deep Brain Stimulation of the Globus Pallidus Internus in the Treatment of Primary Dystonia by a Novel 8-Contact (Octrode) Lead. 38
28363831 2017
9
Haloperidol for psychosis-induced aggression or agitation (rapid tranquillisation). 38
28758203 2017
10
Optimized, Minimal Specific Absorption Rate MRI for High-Resolution Imaging in Patients with Implanted Deep Brain Stimulation Electrodes. 38
27418467 2016
11
Poster 14 Loss of Mobility Secondary to Multiple Spinal Fusions in a Patient with DYT1/DYT-TOR1A Isolated Early Onset Dystonia: A Case Report. 38
27672781 2016
12
Neural stem cell transplantation for the treatment of primary torsion dystonia: A case report. 38
27446258 2016
13
Altered striatal and pallidal connectivity in cervical dystonia. 38
24259114 2015
14
Flupenthixol versus low-potency first-generation antipsychotic drugs for schizophrenia. 38
25177834 2014
15
Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. 38
24500857 2014
16
1H-NMR metabolic profiling of cerebrospinal fluid in patients with complex regional pain syndrome-related dystonia. 38
24120462 2014
17
Sustained relief of generalized dystonia despite prolonged interruption of deep brain stimulation. 38
23400837 2013
18
Complementary therapies in hemifacial spasm and comparison with other movement disorders. 38
23869681 2013
19
Spectrum and characterization of movement disorders secondary to neurosyphilis. 38
23395216 2013
20
Shell shock: Psychogenic gait and other movement disorders-A film review. 38
23538744 2013
21
Haloperidol for psychosis-induced aggression or agitation (rapid tranquillisation). 38
23152276 2012
22
Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out. 38
22391119 2012
23
Botulinum toxin clinic-based epidemiologic survey of adults with primary dystonia in East china. 38
24868406 2012
24
Animal models of dystonia: Lessons from a mutant rat. 38
21081162 2011
25
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. 38
21412843 2011
26
[Deep brain stimulation in movement disorders: a Prague-center experience]. 38
21634199 2011
27
A molecular link between dystonia 1 and dystonia 6? 38
20976763 2010
28
Prevalence of THAP1 sequence variants in German patients with primary dystonia. 38
20669277 2010
29
The monogenic primary dystonias. 38
19578124 2009
30
Reoperation for suboptimal outcomes after deep brain stimulation surgery. 38
18981887 2008
31
Deep brain stimulation for dystonia: outcome at long-term follow-up. 38
18338193 2008
32
Deep brain stimulation in the treatment of secondary dystonia. 38
17199958 2006
33
CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred. 38
16538621 2006
34
Acupuncture-induced cerebral blood flow responses in dystonia. 38
16485581 2006
35
Stimulation of the globus pallidus internus for childhood-onset dystonia. 38
15895426 2005
36
Clinical and molecular genetic evaluation of patients with primary dystonia. 38
15679701 2005
37
[Psychoses in patients with Parkinson's disease; their frequency, phenomenology, and clinical correlates]. 38
15714992 2005
38
Movement disorders after intervertebral disc surgery: coincidence or causal relationship? 38
15368615 2004
39
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. 38
15028751 2004
40
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. 38
12975293 2003
41
Hyperkinetic movement disorders misdiagnosed as tics in Gilles de la Tourette syndrome. 38
9613740 1998
42
Isolated so-called apraxia of eyelid opening: report of 10 cases and a review of the literature. 38
9635470 1998
43
Clinical study of cerebral malaria in African children. 38
10895220 1997
44
Movement disorders following lesions of the thalamus or subthalamic region. 38
7990845 1994
45
[Magnetic resonance imaging of parkinsonism]. 38
2582685 1989
46
High doses of prochlorperazine for cisplatin-induced emesis. A prospective, random, dose-response study. 38
3440226 1987
47
Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials. 38
3703282 1986

Variations for Dyt-Tor1a

ClinVar genetic disease variations for Dyt-Tor1a:

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) short repeat Pathogenic/Likely pathogenic rs80358233 9:132576341-132576343 9:129814062-129814064
2 TOR1A NM_000113.3(TOR1A): c.862C> T (p.Arg288Ter) single nucleotide variant Likely pathogenic rs760768475 9:132576388-132576388 9:129814109-129814109
3 TOR1A NM_000113.3(TOR1A): c.613T> A (p.Phe205Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs267607134 9:132581031-132581031 9:129818752-129818752
4 TOR1A NM_000113.3(TOR1A): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 9:132576387-132576387 9:129814108-129814108
5 TOR1A NM_000113.3(TOR1A): c.*165G> A single nucleotide variant Uncertain significance rs886063523 9:132576086-132576086 9:129813807-129813807
6 TOR1A NM_000113.3(TOR1A): c.300G> A (p.Leu100=) single nucleotide variant Uncertain significance rs773480738 9:132585004-132585004 9:129822725-129822725
7 TOR1A NM_000113.3(TOR1A): c.*812C> G single nucleotide variant Uncertain significance rs886063519 9:132575439-132575439 9:129813160-129813160
8 TOR1A NM_000113.3(TOR1A): c.*623C> T single nucleotide variant Uncertain significance rs886063520 9:132575628-132575628 9:129813349-129813349
9 TOR1A NM_000113.3(TOR1A): c.932_933AG[1] (p.Arg312fs) short repeat Uncertain significance rs80358234 9:132576313-132576316 9:129814034-129814037
10 TOR1A NM_000113.3(TOR1A): c.966_983del (p.Phe323_Tyr328del) deletion Uncertain significance rs80358235 9:132576267-132576284 9:129813988-129814005
11 TOR1A NM_000113.3(TOR1A): c.581A> T (p.Asp194Val) single nucleotide variant Uncertain significance rs886041099 9:132581063-132581063 9:129818784-129818784
12 TOR1A NM_000113.3(TOR1A): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs529094238 9:132584919-132584919 9:129822640-129822640
13 TOR1A NM_000113.3(TOR1A): c.361G> A (p.Glu121Lys) single nucleotide variant Uncertain significance rs199535970 9:132584943-132584943 9:129822664-129822664
14 TOR1A NM_000113.3(TOR1A): c.40_45del (p.Ala14_Pro15del) deletion Uncertain significance rs886041098 9:132586320-132586325 9:129824041-129824046
15 TOR1A NM_000113.3(TOR1A): c.*345C> T single nucleotide variant Uncertain significance rs886063521 9:132575906-132575906 9:129813627-129813627
16 TOR1A NM_000113.3(TOR1A): c.*149G> A single nucleotide variant Uncertain significance rs886063524 9:132576102-132576102 9:129813823-129813823
17 TOR1A NM_000113.3(TOR1A): c.*934A> G single nucleotide variant Uncertain significance rs760680759 9:132575317-132575317 9:129813038-129813038
18 TOR1A NM_000113.3(TOR1A): c.*785G> A single nucleotide variant Uncertain significance rs147959623 9:132575466-132575466 9:129813187-129813187
19 TOR1A NM_000113.3(TOR1A): c.*112G> C single nucleotide variant Uncertain significance rs75881350 9:132576139-132576139 9:129813860-129813860
20 TOR1A NM_000113.3(TOR1A): c.-31C> A single nucleotide variant Uncertain significance rs367933546 9:132586395-132586395 9:129824116-129824116
21 TOR1A NM_000113.3(TOR1A): c.*1010A> G single nucleotide variant Uncertain significance rs886063518 9:132575241-132575241 9:129812962-129812962
22 TOR1A NM_000113.3(TOR1A): c.*895_*897ATT[1] short repeat Uncertain significance rs552432262 9:132575351-132575353 9:129813072-129813074
23 TOR1A NM_000113.3(TOR1A): c.*216C> T single nucleotide variant Uncertain significance rs886063522 9:132576035-132576035 9:129813756-129813756
24 TOR1A NM_000113.3(TOR1A): c.-4G> C single nucleotide variant Uncertain significance rs769210407 9:132586368-132586368 9:129824089-129824089
25 TOR1A NM_000113.3(TOR1A): c.*454T> A single nucleotide variant Likely benign rs1045441 9:132575797-132575797 9:129813518-129813518
26 TOR1A NM_000113.3(TOR1A): c.*961T> A single nucleotide variant Likely benign rs79201718 9:132575290-132575290 9:129813011-129813011
27 TOR1A NM_000113.3(TOR1A): c.*414G> T single nucleotide variant Likely benign rs199964594 9:132575837-132575837 9:129813558-129813558
28 TOR1A NM_000113.3(TOR1A): c.*414del deletion Likely benign rs35153737 9:132575837-132575837 9:129813558-129813558
29 TOR1A NM_000113.3(TOR1A): c.*191G> T single nucleotide variant Likely benign rs1182 9:132576060-132576060 9:129813781-129813781
30 TOR1A NM_000113.3(TOR1A): c.*831C> T single nucleotide variant Likely benign rs77889648 9:132575420-132575420 9:129813141-129813141
31 TOR1A NM_000113.3(TOR1A): c.*1002C> T single nucleotide variant Likely benign rs144267898 9:132575249-132575249 9:129812970-129812970
32 TOR1A NM_000113.3(TOR1A): c.*214C> G single nucleotide variant Likely benign rs1183 9:132576037-132576037 9:129813758-129813758
33 TOR1A NM_000113.3(TOR1A): c.-36C> T single nucleotide variant Likely benign rs28384433 9:132586400-132586400 9:129824121-129824121
34 TOR1A NM_000113.2(TOR1A): c.-52T> G single nucleotide variant Likely benign rs114150156 9:132586416-132586416 9:129824137-129824137
35 TOR1A NM_000113.3(TOR1A): c.*423del deletion Likely benign rs573629050 9:132575828-132575828 9:129813549-129813549
36 TOR1A NM_000113.3(TOR1A): c.*824del deletion Likely benign rs3842225 9:132575427-132575427 9:129813148-129813148
37 TOR1A NM_000113.3(TOR1A): c.*416T> G single nucleotide variant Likely benign rs186581792 9:132575835-132575835 9:129813556-129813556
38 TOR1A NM_000113.3(TOR1A): c.*415_*416insG insertion Likely benign rs60745320 9:132575835-132575836 9:129813556-129813557
39 TOR1A NM_000113.3(TOR1A): c.26G> C (p.Gly9Ala) single nucleotide variant Benign/Likely benign rs200493208 9:132586339-132586339 9:129824060-129824060
40 TOR1A NM_000113.3(TOR1A): c.749-11C> A single nucleotide variant Benign/Likely benign rs72755217 9:132576512-132576512 9:129814233-129814233
41 TOR1A NM_000113.3(TOR1A): c.246C> T (p.Ala82=) single nucleotide variant Benign/Likely benign rs2296793 9:132585058-132585058 9:129822779-129822779
42 TOR1A NM_000113.3(TOR1A): c.646G> C (p.Asp216His) single nucleotide variant Benign/Likely benign rs1801968 9:132580901-132580901 9:129818622-129818622

Expression for Dyt-Tor1a

Search GEO for disease gene expression data for Dyt-Tor1a.

Pathways for Dyt-Tor1a

GO Terms for Dyt-Tor1a

Sources for Dyt-Tor1a

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