These forms of the disorder appear soon after birth and are more difficult to treat effectively.īabies with infantile parkinsonism have delayed development of motor skills such as sitting unsupported or reaching for a toy. The severe forms of TH deficiency are called infantile parkinsonism and progressive infantile encephalopathy. The movement difficulties may slowly increase with age but almost always get better with medical treatment. In some cases, people with TH-deficient DRD have additional movement problems such as shaking when holding a position (postural tremor) or involuntary upward-rolling movements of the eyes. ![]() ![]() Affected individuals may exhibit unusual limb positioning and a lack of coordination when walking or running. Symptoms usually appear during childhood. The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). ![]() Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.
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