DYT9
MCID: DYS119
MIFTS: 45

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 57 12 75 29 6
Choreoathetosis/spasticity, Episodic 57 13 73
Dyt9 57 59 75
Episodic Choreoathetosis/spasticity 59 75
Paroxysmal Dystonic Choreathetosis with Episodic Ataxia and Spasticity 59
Choreoathetosis, Kinesigenic, with Episodic Ataxia and Spasticity 57
Kinesigenic Choreoathetosis with Episodic Ataxia and Spasticity 75
Cse Choreoathetosis, Paroxysmal, with Episodic Ataxia 57
Paroxysmal Choreoathetosis with Episodic Ataxia 75
Muscle Spasticity 44
Dystonia, Type 9 40
Dystonia-9 75
Cse 75

Characteristics:

OMIM:

57
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:

32
dystonia 9:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601042
Disease Ontology 12 DOID:0090044
ICD10 33 G24.8
Orphanet 59 ORPHA53583
ICD10 via Orphanet 34 G24.8
UMLS via Orphanet 74 C1832855
MedGen 42 C1832855
UMLS 73 C1832855

Summaries for Dystonia 9

OMIM : 57 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 spinal cord, bone and brain, and related phenotypes are diplopia and intellectual disability

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 : 75 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 37)
# 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 10.9
4 amyotrophic lateral sclerosis 1 10.8
5 spastic ataxia, charlevoix-saguenay type 10.8
6 salla disease 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 cerebral palsy 10.2
15 paroxysmal choreoathetosis 10.1
16 spasticity 10.1
17 ischemia 10.1
18 spinal cord injury 10.0
19 critical limb ischemia 9.9
20 hydrocephalus 9.9
21 limb ischemia 9.9
22 atrial fibrillation 9.9
23 pre-eclampsia 9.9
24 placenta praevia 9.9
25 mesenteric vascular occlusion 9.9
26 eclampsia 9.9
27 communicating hydrocephalus 9.9
28 acute pancreatitis 9.9
29 pancreatitis 9.9
30 fetal methylmercury syndrome 9.9
31 st anthony's fire 9.9
32 brain injury 9.9
33 traumatic brain injury 9.8
34 spastic cerebral palsy 9.8
35 hemiplegia 9.8
36 monoclonal mast cell activation syndrome 9.8
37 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dystonia 9:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 59 32 frequent (33%) Frequent (79-30%) HP:0000651
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
6 generalized tonic-clonic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002069
7 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
8 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
9 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
10 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
11 episodic ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002131
12 paroxysmal dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007166
13 abnormal pyramidal signs 59 Frequent (79-30%)
14 dyskinesia 32 HP:0100660
15 cognitive impairment 32 HP:0100543
16 migraine 32 HP:0002076
17 morphological abnormality of the pyramidal tract 32 HP:0002062
18 abnormal pyramidal sign 32 frequent (33%) HP:0007256

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 29 SLC2A1

Anatomical Context for Dystonia 9

MalaCards organs/tissues related to Dystonia 9:

41
Spinal Cord, Bone, Brain, Testes, Eye, Skeletal Muscle, Placenta

Publications for Dystonia 9

Articles related to Dystonia 9:

(show all 40)
# Title Authors Year
1
Effectiveness of Faradic and Russian currents on plantar flexor muscle spasticity, ankle motor recovery, and functional gait in stroke patients. ( 29417699 )
2018
2
Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity. ( 29910710 )
2018
3
Influence of Spinal Manipulation on Muscle Spasticity and Manual Dexterity in Participants With Cerebral Palsy: Randomized Controlled Trial. ( 30228805 )
2018
4
Effects of a hippotherapy intervention on muscle spasticity in children with cerebral palsy: A randomized controlled trial. ( 29705454 )
2018
5
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
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
Cryotherapy reduces muscle spasticity but does not affect proprioception in ischemic stroke: a randomized sham-controlled crossover study. ( 30138128 )
2018
8
Ultrasonographic Evaluation for the Effect of Extracorporeal Shock Wave Therapy on Gastrocnemius Muscle Spasticity in Patients With Chronic Stroke. ( 30145342 )
2018
9
Interventions for managing skeletal muscle spasticity following traumatic brain injury. ( 29165784 )
2017
10
Assessing muscle spasticity with Myotonometric and passive stretch measurements: validity of the Myotonometer. ( 28281581 )
2017
11
Effects of whole body vibration on muscle spasticity for people with central nervous system disorders: a systematic review. ( 26658333 )
2017
12
Assessment of forearm muscle spasticity with sonoelastography in patients with stroke. ( 27679870 )
2016
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
The Effect of Alpinia zerumbet Essential Oil on Post-Stroke Muscle Spasticity. ( 26132090 )
2016
17
Effect of Transcutaneous Electrical Nerve Stimulation on Plantar Flexor Muscle Spasticity and Walking Speed in Stroke Patients. ( 26267851 )
2016
18
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
19
Thoracic 9 Spinal Transection-Induced Model of Muscle Spasticity in the Rat: A Systematic Electrophysiological and Histopathological Characterization. ( 26713446 )
2015
20
Surgical Treatment Guidelines for Digital Deformity Associated With Intrinsic Muscle Spasticity (Intrinsic Plus Foot) in Adults With Cerebral Palsy. ( 25154656 )
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
Inter-rater reliability of modified modified Ashworth scale in the assessment of plantar flexor muscle spasticity in patients with spinal cord injury. ( 24619735 )
2014
24
Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis. ( 23433545 )
2013
25
Effect of radial shock wave therapy on muscle spasticity in children with cerebral palsy. ( 23603803 )
2013
26
The pharmacological management of post-stroke muscle spasticity. ( 23138834 )
2012
27
Intra-rater reliability of the Modified Modified Ashworth Scale (MMAS) in the assessment of upper-limb muscle spasticity. ( 22951716 )
2012
28
Clinical comparative study: efficacy and tolerability of tolperisone and thiocolchicoside in acute low back pain and spinal muscle spasticity. ( 22708015 )
2012
29
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
30
Effects of gabapentin on muscle spasticity and both induced as well as spontaneous autonomic dysreflexia after complete spinal cord injury. ( 22934077 )
2012
31
Obturator neurolysis using 65% alcohol for adductor muscle spasticity. ( 23162405 )
2012
32
Adductor muscle spasticity. ( 21226870 )
2011
33
Measurement of lower-limb muscle spasticity: intrarater reliability of Modified Modified Ashworth Scale. ( 21328165 )
2011
34
Muscle spasticity associated with reduced whole-leg perfusion in persons with spinal cord injury. ( 22330115 )
2011
35
Behind the paper: muzzling muscle spasticity. ( 20512125 )
2010
36
The profile of patients and current practice of treatment of upper limb muscle spasticity with botulinum toxin type A: an international survey. ( 20154631 )
2010
37
The use of botulinum toxin for the treatment of muscle spasticity in the first 2 years of life. ( 19574925 )
2010
38
Efficacy of therapeutic ultrasound and infrared in the management of muscle spasticity. ( 19557566 )
2009
39
Interrater reliability of the Modified Modified Ashworth Scale (MMAS) for patients with wrist flexor muscle spasticity. ( 18821443 )
2008
40
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:

75
# 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_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
2 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh38 Chromosome 1, 42930766: 42930766
3 SLC2A1 NM_006516.2(SLC2A1): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs387907312 GRCh37 Chromosome 1, 43395589: 43395589
4 SLC2A1 NM_006516.2(SLC2A1): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs387907312 GRCh38 Chromosome 1, 42929918: 42929918
5 SLC2A1 NM_006516.2(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh37 Chromosome 1, 43394617: 43394617
6 SLC2A1 NM_006516.2(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh38 Chromosome 1, 42928946: 42928946

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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