MCID: DYS119
MIFTS: 33

Dystonia 9

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Ear diseases, Fetal 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 paroxysmal choreoathetosis, and has symptoms including headache, muscle spasticity and abnormal pyramidal signs. An important gene associated with Dystonia 9 is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include spinal cord, and related phenotypes are diplopia and dysarthria

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.

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.

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 14)
# Related Disease Score Top Affiliating Genes
1 paroxysmal exertion-induced dyskinesia 11.4
2 paroxysmal choreoathetosis 9.9
3 spasticity 9.9
4 myocardial infarction 9.8
5 acute myocardial infarction 9.8
6 critical limb ischemia 9.8
7 hydrocephalus 9.8
8 limb ischemia 9.8
9 placenta praevia 9.8
10 mesenteric vascular occlusion 9.8
11 communicating hydrocephalus 9.8
12 acute pancreatitis 9.8
13 ischemia 9.8
14 pancreatitis 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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 diplopia 32 HP:0000651
2 dysarthria 32 HP:0001260
3 hyperreflexia 32 HP:0001347
4 abnormal pyramidal signs 32 HP:0007256
5 dyskinesia 32 HP:0100660
6 cognitive impairment 32 HP:0100543
7 dystonia 32 HP:0001332
8 migraine 32 HP:0002076
9 paresthesia 32 HP:0003401
10 choreoathetosis 32 HP:0001266
11 headache 32 HP:0002315
12 spastic paraplegia 32 HP:0001258
13 episodic ataxia 32 HP:0002131
14 morphological abnormality of the pyramidal tract 32 HP:0002062

UMLS symptoms related to Dystonia 9:


headache, muscle spasticity, abnormal pyramidal signs, involuntary movements

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

Publications for Dystonia 9

Articles related to Dystonia 9:

(show all 19)
# 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
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
4
Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis. ( 23433545 )
2013
5
Effect of radial shock wave therapy on muscle spasticity in children with cerebral palsy. ( 23603803 )
2013
6
The pharmacological management of post-stroke muscle spasticity. ( 23138834 )
2012
7
Intra-rater reliability of the Modified Modified Ashworth Scale (MMAS) in the assessment of upper-limb muscle spasticity. ( 22951716 )
2012
8
Clinical comparative study: efficacy and tolerability of tolperisone and thiocolchicoside in acute low back pain and spinal muscle spasticity. ( 22708015 )
2012
9
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
10
Effects of gabapentin on muscle spasticity and both induced as well as spontaneous autonomic dysreflexia after complete spinal cord injury. ( 22934077 )
2012
11
Obturator neurolysis using 65% alcohol for adductor muscle spasticity. ( 23162405 )
2012
12
Adductor muscle spasticity. ( 21226870 )
2011
13
Measurement of lower-limb muscle spasticity: intrarater reliability of Modified Modified Ashworth Scale. ( 21328165 )
2011
14
Muscle spasticity associated with reduced whole-leg perfusion in persons with spinal cord injury. ( 22330115 )
2011
15
Behind the paper: muzzling muscle spasticity. ( 20512125 )
2010
16
The profile of patients and current practice of treatment of upper limb muscle spasticity with botulinum toxin type A: an international survey. ( 20154631 )
2010
17
The use of botulinum toxin for the treatment of muscle spasticity in the first 2 years of life. ( 19574925 )
2010
18
Efficacy of therapeutic ultrasound and infrared in the management of muscle spasticity. ( 19557566 )
2009
19
Inter-rater reliability of the Modified Modified Ashworth Scale in assessing lower limb muscle spasticity. ( 19697170 )
2009

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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