Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities (DYTOABG)

Alias:

Mepan Syndrome

Dyt29

Mitochondrial Enoyl Coa Reductase Protein-Associated Neurodegeneration Syndrome

Childhood-Onset Generalized Dystonia-Optic Atrophy Syndrome

Autosomal Recessive Childhood-Onset Dystonia, Dyt29 Type

Dystonia 29, Childhood-Onset

Dystonia 29

Dytoabg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities, also known as mepan syndrome, is related to optic atrophy 1 and 3-methylglutaconic aciduria, type iii. An important gene associated with Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities is MECR (Mitochondrial Trans-2-Enoyl-CoA Reductase). Affiliated tissues include eye and brain, and related phenotypes are dysarthria and dystonia

Related ID：

MALACARDS：DYS187

OMIM：617282

MESH：D001480