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
Choreoathetosis/spasticity, Episodic 58 13 74
Dyt9 58 60 76
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 choreoathetosis/spasticity, episodic, is related to paroxysmal exertion-induced dyskinesia and glut1 deficiency syndrome 1, and has symptoms including abnormal pyramidal signs, involuntary movements and headache. 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 45)
# 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 salla disease 10.8
8 purine nucleoside phosphorylase deficiency 10.8
9 aicardi-goutieres syndrome 10.8
10 neurodegeneration with brain iron accumulation 10.8
11 bain type of x-linked syndromic intellectual disability 10.8
12 x-linked intellectual disability, schimke type 10.8
13 encephalopathy 10.8
14 charles bonnet syndrome 10.3
15 cerebral palsy 10.2
16 pre-eclampsia 10.2
17 paroxysmal choreoathetosis 10.1
18 spasticity 10.1
19 brain injury 10.1
20 eclampsia 10.1
21 ischemia 10.1
22 spinal cord injury 10.0
23 traumatic brain injury 10.0
24 multiple sclerosis 9.9
25 atrial standstill 1 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 distal trisomy 9q 9.9
41 spastic cerebral palsy 9.8
42 neuroleptic malignant syndrome 9.8
43 poliomyelitis 9.8
44 malignant hyperthermia 9.8
45 spastic paraparesis 9.8

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 18)
# 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 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
7 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
8 choreoathetosis 60 33 frequent (33%) Frequent (79-30%) HP:0001266
9 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
10 spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001258
11 episodic ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002131
12 abnormal pyramidal sign 33 frequent (33%) HP:0007256
13 generalized tonic-clonic seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0002069
14 abnormal pyramidal signs 60 Frequent (79-30%)
15 dyskinesia 33 HP:0100660
16 cognitive impairment 33 HP:0100543
17 migraine 33 HP:0002076
18 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:


abnormal pyramidal signs, involuntary movements, headache, muscle spasticity

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

Publications for Dystonia 9

Articles related to Dystonia 9:

(show top 50) (show all 73)
# 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
Effectiveness of Faradic and Russian currents on plantar flexor muscle spasticity, ankle motor recovery, and functional gait in stroke patients. ( 29417699 )
2018
3
Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity. ( 29910710 )
2018
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
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
7
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
8
Cryotherapy reduces muscle spasticity but does not affect proprioception in ischemic stroke: a randomized sham-controlled crossover study. ( 30138128 )
2018
9
Ultrasonographic Evaluation for the Effect of Extracorporeal Shock Wave Therapy on Gastrocnemius Muscle Spasticity in Patients With Chronic Stroke. ( 30145342 )
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
Preclinical models of muscle spasticity: valuable tools in the development of novel treatment for neurological diseases and conditions. ( 26861550 )
2016
15
Effect of Focal Muscle Vibration on Calf Muscle Spasticity: A Proof-of-Concept Study. ( 26994885 )
2016
16
Assessment of forearm muscle spasticity with sonoelastography in patients with stroke. ( 27679870 )
2016
17
The Effect of Alpinia zerumbet Essential Oil on Post-Stroke Muscle Spasticity. ( 26132090 )
2016
18
Effect of Transcutaneous Electrical Nerve Stimulation on Plantar Flexor Muscle Spasticity and Walking Speed in Stroke Patients. ( 26267851 )
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
Dry needling for the treatment of poststroke muscle spasticity: a prospective case report. ( 25547766 )
2015
21
Efficacy and safety of transcutaneous electrical acupoint stimulation to treat muscle spasticity following brain injury: a double-blinded, multicenter, randomized controlled trial. ( 25643051 )
2015
22
Thoracic 9 Spinal Transection-Induced Model of Muscle Spasticity in the Rat: A Systematic Electrophysiological and Histopathological Characterization. ( 26713446 )
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
The pharmacological management of post-stroke muscle spasticity. ( 23138834 )
2012
28
Intra-rater reliability of the Modified Modified Ashworth Scale (MMAS) in the assessment of upper-limb muscle spasticity. ( 22951716 )
2012
29
Clinical comparative study: efficacy and tolerability of tolperisone and thiocolchicoside in acute low back pain and spinal muscle spasticity. ( 22708015 )
2012
30
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
31
Effects of gabapentin on muscle spasticity and both induced as well as spontaneous autonomic dysreflexia after complete spinal cord injury. ( 22934077 )
2012
32
Obturator neurolysis using 65% alcohol for adductor muscle spasticity. ( 23162405 )
2012
33
Adductor muscle spasticity. ( 21226870 )
2011
34
Measurement of lower-limb muscle spasticity: intrarater reliability of Modified Modified Ashworth Scale. ( 21328165 )
2011
35
Muscle spasticity associated with reduced whole-leg perfusion in persons with spinal cord injury. ( 22330115 )
2011
36
Behind the paper: muzzling muscle spasticity. ( 20512125 )
2010
37
The profile of patients and current practice of treatment of upper limb muscle spasticity with botulinum toxin type A: an international survey. ( 20154631 )
2010
38
The use of botulinum toxin for the treatment of muscle spasticity in the first 2 years of life. ( 19574925 )
2010
39
Efficacy of therapeutic ultrasound and infrared in the management of muscle spasticity. ( 19557566 )
2009
40
Inter-rater reliability of the Modified Modified Ashworth Scale in assessing lower limb muscle spasticity. ( 19697170 )
2009
41
The interrater and intrarater reliability of the Modified Ashworth Scale in the assessment of muscle spasticity: limb and muscle group effect. ( 18560139 )
2008
42
Update on tizanidine for muscle spasticity and emerging indications. ( 18671474 )
2008
43
Interrater reliability of the Modified Modified Ashworth Scale (MMAS) for patients with wrist flexor muscle spasticity. ( 18821443 )
2008
44
The effect of Bobath approach on the excitability of the spinal alpha motor neurones in stroke patients with muscle spasticity. ( 17375879 )
2007
45
Confirmatory factor analysis in osteopathic medicine: fascial and spinal motion restrictions as correlates of muscle spasticity in children with cerebral palsy. ( 17635903 )
2007
46
The effect of physiotherapeutic ultrasound on muscle spasticity in patients with hemiplegia: a pilot study. ( 16929632 )
2006
47
Ashworth Scales are unreliable for the assessment of muscle spasticity. ( 16848350 )
2006
48
Intrathecal baclofen for muscle spasticity and pain--two case reports. ( 17094537 )
2006
49
Reflex contribution of spindle group Ia and II afferent input to leg muscle spasticity as revealed by tendon vibration in hemiparesis. ( 15978499 )
2005
50
The effects of isotonic and isokinetic muscle stretch on the excitability of the spinal alpha motor neurones in patients with muscle spasticity. ( 16128875 )
2005

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
# 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.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh37 Chromosome 1, 43394617: 43394617
6 SLC2A1 NM_006516.3(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh38 Chromosome 1, 42928946: 42928946
7 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh37 Chromosome 1, 43396831: 43396831
8 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh38 Chromosome 1, 42931160: 42931160

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
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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