Tyrosine Hydroxylase Deficiency

Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Findings in mild cases can be limited intially to unilateral or asymmetric limb dystonia, postural tremor, or gait "incoordination:" however, progression over time may result in the classic dopa-responsive dystonic gait disorder. Diurnal variation of motor symptoms may be present, worse in the afternoon or evening. Children at the severe end of the spectrum are profoundly disabled from early infancy with developmental motor delay, truncal hypotonia, limb rigidity, and hypokinesia. Ptosis and/or oculogyric crises are common. (Source: GeneReviews)

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