Presentation suspicious for dopa-responsive dystonia (DRD)
– most commonly noticed ~ 6 years of age, initially in the feet and ankles and then can progress to involve multiple areas of the body
– dystonia worsens towards the end of the day in ~50% of patients
– can also worsen during adolescence
– can progress to develop parkinsonian symptoms bradykinesia but usually stabilizes by 20-30 years of age
– most commonly due to autosomal mutation in the GCH1 (GTP cyclohydrolase 1) gene
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