Dystonia 9 (DYT9)

Alias:
Choreoathetosis/spasticity, Episodic
Dyt9
Episodic Choreoathetosis/spasticity
Paroxysmal Dystonic Choreathetosis with Episodic Ataxia and Spasticity
Choreoathetosis, Kinesigenic, with Episodic Ataxia and Spasticity
Kinesigenic Choreoathetosis with Episodic Ataxia and Spasticity
Cse Choreoathetosis, Paroxysmal, with Episodic Ataxia
Paroxysmal Choreoathetosis with Episodic Ataxia
Dystonia, Type 9
Dystonia-9
Cse
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dystonia 9, also known as choreoathetosis/spasticity, episodic, is related to glucose transporter type 1 deficiency syndrome and spastic paraplegia-epilepsy-intellectual disability syndrome, 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). Related phenotypes are paroxysmal dyskinesia and intellectual disability
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
7
43
7

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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