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GTP cyclohydrolase 1 (GCH-1)-associated dystonia can present atypically, with varied symptoms and poor levodopa response. Awareness of these diverse presentations is crucial for accurate diagnosis and management.

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Dopa-responsive dystonia (DRD) is a heterogeneous group of neurochemical disorders.
  • Classic GTP cyclohydrolase 1 (GCH-1)-associated DRD typically presents with early-onset, lower limb dystonia, diurnal variation, and good levodopa response.

Purpose of the Study:

  • To review the spectrum of atypical Dopa-responsive dystonia (DRD) presentations.
  • To highlight phenotypic variability in GCH-1-associated dystonia.
  • To discuss DRD-plus syndromes and differential diagnoses.

Main Methods:

  • Case report of a patient with late-onset GCH-1-associated DRD.
  • Literature review of GCH-1-related dystonia and its variants.
  • Analysis of atypical features and complications.

Main Results:

  • Atypical GCH-1-associated DRD can manifest with late onset, parkinsonism, cervical dystonia, and poor levodopa response.
  • This case presented with dyskinesia, blepharospasm, and severe nonmotor symptoms.
  • GCH-1 variants are also linked to Parkinson disease.

Conclusions:

  • GCH-1-related dystonia exhibits significant intrafamilial phenotypic variability.
  • Presentations may lack diurnal fluctuation and show poor levodopa response.
  • Clinicians must recognize atypical DRD, DRD-plus, and mimics for effective patient care.