Autosomal recessive dopa-responsive dystonia (Q64260)

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.

Language	Label	Description	Also known as
default for all languages	ID_1208668939
English	Autosomal recessive dopa-responsive dystonia	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.