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  • Title: Dopa-responsive dystonia presenting as delayed and awkward gait.
    Author: Cheyette BN, Cheyette SN, Cusmano-Ozog K, Enns GM.
    Journal: Pediatr Neurol; 2008 Apr; 38(4):273-5. PubMed ID: 18358407.
    Abstract:
    Dopa-responsive dystonia is a hereditary disease characterized by inadequate dopamine production. Autosomal-dominant cases result from mutations in the GCH1 gene, encoding guanosine triphosphate (GTP)-cyclohydrolase 1. The most common presenting manifestation is dystonia of a lower extremity, often worsening late in the day. The onset and clinical severity are variable, sometimes even within a single family. Gender effects on allele penetrance have been reported. We present a male toddler with dopa-responsive dystonia caused by an autosomal-dominant GCH1 mutation. Three other family members were also found to carry the mutation, with widely different functional consequences.
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