DYT9
MCID: DYS119
MIFTS: 38

Dystonia 9 (DYT9)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 9

MalaCards integrated aliases for Dystonia 9:

Name: Dystonia 9 58 12 76 30 6
Dyt9 58 60 76
Choreoathetosis/spasticity, Episodic 58 74
Episodic Choreoathetosis/spasticity 60 76
Paroxysmal Dystonic Choreathetosis with Episodic Ataxia and Spasticity 60
Choreoathetosis, Kinesigenic, with Episodic Ataxia and Spasticity 58
Kinesigenic Choreoathetosis with Episodic Ataxia and Spasticity 76
Cse Choreoathetosis, Paroxysmal, with Episodic Ataxia 58
Paroxysmal Choreoathetosis with Episodic Ataxia 76
Muscle Spasticity 45
Dystonia, Type 9 41
Dystonia-9 76
Cse 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable features
onset at 2 to 15 years
symptoms precipitated by stress, exertion, fatigue, alcohol
some patients respond to acetazolamide


HPO:

33
dystonia 9:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090044
OMIM 58 601042
ICD10 34 G24.8
ICD10 via Orphanet 35 G24.8
UMLS via Orphanet 75 C1832855
Orphanet 60 ORPHA53583
MedGen 43 C1832855
UMLS 74 C1832855

Summaries for Dystonia 9

OMIM : 58 Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011). (601042)

MalaCards based summary : Dystonia 9, also known as dyt9, is related to paroxysmal exertion-induced dyskinesia and glut1 deficiency syndrome 1, and has symptoms including headache, involuntary movements and muscle spasticity. An important gene associated with Dystonia 9 is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are paroxysmal dyskinesia and diplopia

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.

UniProtKB/Swiss-Prot : 76 Dystonia 9: An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia.

Related Diseases for Dystonia 9

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia

Diseases related to Dystonia 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 paroxysmal exertion-induced dyskinesia 11.6
2 glut1 deficiency syndrome 1 11.1
3 neurodegeneration with brain iron accumulation 1 11.0
4 amyotrophic lateral sclerosis 1 10.8
5 pseudo-torch syndrome 1 10.8
6 spastic ataxia, charlevoix-saguenay type 10.8
7 purine nucleoside phosphorylase deficiency 10.8
8 aicardi-goutieres syndrome 10.8
9 neurodegeneration with brain iron accumulation 10.8
10 bain type of x-linked syndromic intellectual disability 10.8
11 x-linked intellectual disability, schimke type 10.8
12 encephalopathy 10.8
13 charles bonnet syndrome 10.3
14 pre-eclampsia 10.3
15 cerebral palsy 10.2
16 eclampsia 10.1
17 ischemia 10.1
18 glut1 deficiency syndrome 2 10.1
19 paroxysmal choreoathetosis 10.1
20 spasticity 10.1
21 brain injury 10.0
22 spinal cord injury 10.0
23 traumatic brain injury 10.0
24 atrial standstill 1 9.9
25 homocysteinemia 9.9
26 critical limb ischemia 9.9
27 hydrocephalus 9.9
28 limb ischemia 9.9
29 atrial fibrillation 9.9
30 hemiplegia 9.9
31 placenta praevia 9.9
32 diphtheria 9.9
33 mesenteric vascular occlusion 9.9
34 communicating hydrocephalus 9.9
35 endometriosis 9.9
36 acute pancreatitis 9.9
37 pancreatitis 9.9
38 fetal methylmercury syndrome 9.9
39 st anthony's fire 9.9
40 multiple sclerosis 9.9
41 hereditary spastic paraplegia 9.7
42 spastic cerebral palsy 9.7
43 neuroleptic malignant syndrome 9.7
44 poliomyelitis 9.7
45 malignant hyperthermia 9.7
46 spastic paraparesis 9.7

Graphical network of the top 20 diseases related to Dystonia 9:



Diseases related to Dystonia 9

Symptoms & Phenotypes for Dystonia 9

Human phenotypes related to Dystonia 9:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paroxysmal dyskinesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007166
2 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651
3 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
4 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
5 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
6 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
7 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
8 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
9 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
10 choreoathetosis 60 33 frequent (33%) Frequent (79-30%) HP:0001266
11 spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001258
12 episodic ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002131
13 generalized tonic-clonic seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0002069
14 dyskinesia 33 HP:0100660
15 cognitive impairment 33 HP:0100543
16 migraine 33 HP:0002076
17 morphological abnormality of the pyramidal tract 33 HP:0002062

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
diplopia

Neurologic Peripheral Nervous System:
paresthesias

Neurologic Central Nervous System:
spasticity
dysarthria
hyperreflexia
cognitive impairment
dystonia
more

Clinical features from OMIM:

601042

UMLS symptoms related to Dystonia 9:


headache, involuntary movements, muscle spasticity, abnormal pyramidal signs

Drugs & Therapeutics for Dystonia 9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search NIH Clinical Center for Dystonia 9

Cochrane evidence based reviews: muscle spasticity

Genetic Tests for Dystonia 9

Genetic tests related to Dystonia 9:

# Genetic test Affiliating Genes
1 Dystonia 9 30 SLC2A1

Anatomical Context for Dystonia 9

MalaCards organs/tissues related to Dystonia 9:

42
Brain, Spinal Cord, Skeletal Muscle, Eye, Placenta

Publications for Dystonia 9

Articles related to Dystonia 9:

(show top 50) (show all 78)
# Title Authors Year
1
Which interventions are useful for managing muscle spasticity in individuals who sustained traumatic brain injury? - A Cochrane Review summary with commentary. ( 30714982 )
2019
2
Cryotherapy Reduces Muscle Spasticity But Does Not Affect Proprioception in Ischemic Stroke: A Randomized Sham-Controlled Crossover Study. ( 30138128 )
2019
3
Ultrasonographic Evaluation for the Effect of Extracorporeal Shock Wave Therapy on Gastrocnemius Muscle Spasticity in Patients With Chronic Stroke. ( 30145342 )
2019
4
Influence of Spinal Manipulation on Muscle Spasticity and Manual Dexterity in Participants With Cerebral Palsy: Randomized Controlled Trial. ( 30228805 )
2018
5
Effects of a hippotherapy intervention on muscle spasticity in children with cerebral palsy: A randomized controlled trial. ( 29705454 )
2018
6
Localization of center of intramuscular nerve dense regions in adult anterior brachial muscles: a guide for botulinum toxin A injection to treat muscle spasticity. ( 29736215 )
2018
7
Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity. ( 29910710 )
2018
8
Effectiveness of Faradic and Russian currents on plantar flexor muscle spasticity, ankle motor recovery, and functional gait in stroke patients. ( 29417699 )
2018
9
Time-dependent, bidirectional, anti- and pro-spinal hyper-reflexia and muscle spasticity effect after chronic spinal glycine transporter 2 (GlyT2) oligonucleotide-induced downregulation. ( 29608917 )
2018
10
Interventions for managing skeletal muscle spasticity following traumatic brain injury. ( 29165784 )
2017
11
Assessing muscle spasticity with Myotonometric and passive stretch measurements: validity of the Myotonometer. ( 28281581 )
2017
12
Effects of whole body vibration on muscle spasticity for people with central nervous system disorders: a systematic review. ( 26658333 )
2017
13
Changes in Muscle Spasticity in Patients With Cerebral Palsy After Spinal Manipulation: Case Series. ( 27857638 )
2016
14
Assessment of forearm muscle spasticity with sonoelastography in patients with stroke. ( 27679870 )
2016
15
Effect of Transcutaneous Electrical Nerve Stimulation on Plantar Flexor Muscle Spasticity and Walking Speed in Stroke Patients. ( 26267851 )
2016
16
Preclinical models of muscle spasticity: valuable tools in the development of novel treatment for neurological diseases and conditions. ( 26861550 )
2016
17
Effect of Focal Muscle Vibration on Calf Muscle Spasticity: A Proof-of-Concept Study. ( 26994885 )
2016
18
The Effect of Alpinia zerumbet Essential Oil on Post-Stroke Muscle Spasticity. ( 26132090 )
2016
19
Therapeutic Effect of Extracorporeal Shock Wave Therapy According to Treatment Session on Gastrocnemius Muscle Spasticity in Children With Spastic Cerebral Palsy: A Pilot Study. ( 26798605 )
2015
20
Thoracic 9 Spinal Transection-Induced Model of Muscle Spasticity in the Rat: A Systematic Electrophysiological and Histopathological Characterization. ( 26713446 )
2015
21
Dry needling for the treatment of poststroke muscle spasticity: a prospective case report. ( 25547766 )
2015
22
Efficacy and safety of transcutaneous electrical acupoint stimulation to treat muscle spasticity following brain injury: a double-blinded, multicenter, randomized controlled trial. ( 25643051 )
2015
23
Surgical Treatment Guidelines for Digital Deformity Associated With Intrinsic Muscle Spasticity (Intrinsic Plus Foot) in Adults With Cerebral Palsy. ( 25154656 )
2015
24
Inter-rater reliability of modified modified Ashworth scale in the assessment of plantar flexor muscle spasticity in patients with spinal cord injury. ( 24619735 )
2014
25
Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis. ( 23433545 )
2013
26
Effect of radial shock wave therapy on muscle spasticity in children with cerebral palsy. ( 23603803 )
2013
27
Clinical comparative study: efficacy and tolerability of tolperisone and thiocolchicoside in acute low back pain and spinal muscle spasticity. ( 22708015 )
2012
28
Effects of gabapentin on muscle spasticity and both induced as well as spontaneous autonomic dysreflexia after complete spinal cord injury. ( 22934077 )
2012
29
Intra-rater reliability of the Modified Modified Ashworth Scale (MMAS) in the assessment of upper-limb muscle spasticity. ( 22951716 )
2012
30
The pharmacological management of post-stroke muscle spasticity. ( 23138834 )
2012
31
Obturator neurolysis using 65% alcohol for adductor muscle spasticity. ( 23162405 )
2012
32
The effect of total cumulative dose, number of treatment cycles, interval between injections, and length of treatment on the frequency of occurrence of antibodies to botulinum toxin type A in the treatment of muscle spasticity. ( 22108625 )
2012
33
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. ( 21832227 )
2011
34
Adductor muscle spasticity. ( 21226870 )
2011
35
Measurement of lower-limb muscle spasticity: intrarater reliability of Modified Modified Ashworth Scale. ( 21328165 )
2011
36
Muscle spasticity associated with reduced whole-leg perfusion in persons with spinal cord injury. ( 22330115 )
2011
37
EFNS guidelines on diagnosis and treatment of primary dystonias. ( 20482602 )
2011
38
The profile of patients and current practice of treatment of upper limb muscle spasticity with botulinum toxin type A: an international survey. ( 20154631 )
2010
39
Behind the paper: muzzling muscle spasticity. ( 20512125 )
2010
40
The use of botulinum toxin for the treatment of muscle spasticity in the first 2 years of life. ( 19574925 )
2010
41
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. ( 19798636 )
2009
42
Inter-rater reliability of the Modified Modified Ashworth Scale in assessing lower limb muscle spasticity. ( 19697170 )
2009
43
Efficacy of therapeutic ultrasound and infrared in the management of muscle spasticity. ( 19557566 )
2009
44
The interrater and intrarater reliability of the Modified Ashworth Scale in the assessment of muscle spasticity: limb and muscle group effect. ( 18560139 )
2008
45
Update on tizanidine for muscle spasticity and emerging indications. ( 18671474 )
2008
46
Interrater reliability of the Modified Modified Ashworth Scale (MMAS) for patients with wrist flexor muscle spasticity. ( 18821443 )
2008
47
Paroxysmal movement disorders in GLUT1 deficiency syndrome. ( 18606970 )
2008
48
The effect of Bobath approach on the excitability of the spinal alpha motor neurones in stroke patients with muscle spasticity. ( 17375879 )
2007
49
Confirmatory factor analysis in osteopathic medicine: fascial and spinal motion restrictions as correlates of muscle spasticity in children with cerebral palsy. ( 17635903 )
2007
50
The effect of physiotherapeutic ultrasound on muscle spasticity in patients with hemiplegia: a pilot study. ( 16929632 )
2006

Variations for Dystonia 9

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 9:

76
# Symbol AA change Variation ID SNP ID
1 SLC2A1 p.Arg126Cys VAR_054757 rs80359818
2 SLC2A1 p.Arg212Cys VAR_065213 rs387907312

ClinVar genetic disease variations for Dystonia 9:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
2 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh38 Chromosome 1, 42930766: 42930766
3 SLC2A1 NM_006516.3(SLC2A1): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs387907312 GRCh37 Chromosome 1, 43395589: 43395589
4 SLC2A1 NM_006516.3(SLC2A1): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs387907312 GRCh38 Chromosome 1, 42929918: 42929918
5 SLC2A1 NM_006516.3(SLC2A1): c.1372C> T (p.Arg458Trp) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs13306758 GRCh37 Chromosome 1, 43392819: 43392819
6 SLC2A1 NM_006516.3(SLC2A1): c.1372C> T (p.Arg458Trp) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs13306758 GRCh38 Chromosome 1, 42927148: 42927148
7 SLC2A1 NM_006516.3(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh37 Chromosome 1, 43394680: 43394680
8 SLC2A1 NM_006516.3(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh38 Chromosome 1, 42929009: 42929009
9 SLC2A1 NM_006516.3(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 GRCh37 Chromosome 1, 43394661: 43394661
10 SLC2A1 NM_006516.3(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 GRCh38 Chromosome 1, 42928990: 42928990
11 SLC2A1 NM_006516.3(SLC2A1): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs796053248 GRCh37 Chromosome 1, 43395556: 43395556
12 SLC2A1 NM_006516.3(SLC2A1): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs796053248 GRCh38 Chromosome 1, 42929885: 42929885
13 SLC2A1 NM_006516.3(SLC2A1): c.1395C> T (p.Ser465=) single nucleotide variant Conflicting interpretations of pathogenicity rs75852730 GRCh37 Chromosome 1, 43392796: 43392796
14 SLC2A1 NM_006516.3(SLC2A1): c.1395C> T (p.Ser465=) single nucleotide variant Conflicting interpretations of pathogenicity rs75852730 GRCh38 Chromosome 1, 42927125: 42927125
15 SLC2A1 NM_006516.3(SLC2A1): c.188C> T (p.Thr63Met) single nucleotide variant Uncertain significance rs200828053 GRCh37 Chromosome 1, 43396804: 43396804
16 SLC2A1 NM_006516.3(SLC2A1): c.188C> T (p.Thr63Met) single nucleotide variant Uncertain significance rs200828053 GRCh38 Chromosome 1, 42931133: 42931133
17 SLC2A1 NM_006516.3(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh37 Chromosome 1, 43394617: 43394617
18 SLC2A1 NM_006516.3(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh38 Chromosome 1, 42928946: 42928946
19 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh37 Chromosome 1, 43396831: 43396831
20 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh38 Chromosome 1, 42931160: 42931160
21 SLC2A1 NM_006516.3(SLC2A1): c.192C> G (p.Leu64=) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 43396800: 43396800
22 SLC2A1 NM_006516.3(SLC2A1): c.192C> G (p.Leu64=) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 42931129: 42931129
23 SLC2A1 NM_006516.3(SLC2A1): c.75G> A (p.Gln25=) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 43408936: 43408936
24 SLC2A1 NM_006516.3(SLC2A1): c.75G> A (p.Gln25=) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 42943265: 42943265

Expression for Dystonia 9

Search GEO for disease gene expression data for Dystonia 9.

Pathways for Dystonia 9

GO Terms for Dystonia 9

Sources for Dystonia 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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