Log In|Sign Up
ENDystonia 11, Myoclonic (DYT11)
Alias:
Myoclonic Dystonia
Myoclonus-Dystonia Syndrome
Myoclonic Dystonia 11
Alcohol-Responsive Dystonia
Dyt11
Hereditary Essential Myoclonus
Myoclonus, Hereditary Essential
Dystonia, Alcohol-Responsive
Dystonia, Myoclonic, Type 11
Dystonia-11, Myoclonic
Dystonia, Myoclonic
Myoclonus-Dystonia
Dystonia 11
Dystonia-11
Favorite
Dystonia 11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and sgce myoclonus-dystonia, and has symptoms including torticollis and tremor. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon), and among its related pathways/superpathways is Alpha-synuclein signaling. The drugs Zonisamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus and brain, and related phenotypes are myoclonus and dystonia
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
