parkinsonism, dystonia, infantile

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parkinsonism, dystonia, infantile

A neurodegenerative disorder (OMIM:613135) characterised by infantile onset of parkinsonism and dystonia with global developmental delay, bradykinesia and pyramidal tract signs.

Molecular pathology
Caused by defects in SLC6A3, which encodes a dopamine transporter that terminates dopamine action.