Catalog

Ataxia due to POLG mutations MIRAS

No MMS code

Link to WHO Definition

Ataxia due to POLG mutations MIRAS – http://id.who.int/icd/entity/2067135834

Mitochondrial recessive ataxia syndrome (MIRAS) is an autosomal recessive ataxia caused by homozygous or compound heterozygous mutations in the POLG1 gene coding for the mitochondrial DNA polymerase gamma catalytic subunit. Characterized by cerebellar ataxia, dysarthria, involuntary movements, seizures, and psychiatric symptoms.