Catalog

Autosomal recessive dopa-responsive dystonia

No MMS code

Link to WHO Definition

Autosomal recessive dopa-responsive dystonia – http://id.who.int/icd/entity/1208668939

This is a rare recessively inherited movement disorder which usually manifests itself during early childhood. The characteristic clinical features are as in the parent category. It may be is due to a mutation in thetyrosine hydroxylase gene and has a more complex phenotype than GTP cyclohydrolase mutation. Oculogyric crises may occur.