AI Article Synopsis
- Tyrosine hydroxylase (TH) deficiency is a genetic disorder that primarily affects movement, causing symptoms like rigidity and dystonia, and often responds well to the medication levodopa.
- A case study involves a child experiencing developmental regression, tremors, and encephalopathy who was diagnosed with this deficiency.
- After starting treatment, the child showed significant improvement and was able to meet important developmental milestones.
Article Abstract
Tyrosine hydroxylase (TH) deficiency is an autosomal recessive condition first described as a progressive, early-onset hypokinetic-rigid and dystonic syndrome that was responsive to levodopa. Here we present a child with developmental regression, proximal tremor, and encephalopathy found to have tyrosine hydroxylase deficiency in whom treatment resulted in acquisition of developmental milestones.
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| http://dx.doi.org/10.1016/j.parkreldis.2021.04.020 | DOI Listing |
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