TH-deficient infantile parkinsonism and motor delay

Definition

A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).

Also known as tyrosine hydroxylase infantile parkinsonism and motor delay — per MONDO