title: Dopa-responsive dystonia presenting as delayed and awkward gait.
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.
authors: Department of Psychiatry, Center for Neurobiology and Psychiatry, University of California at San Francisco, San Francisco, California 94158-2324, USA. bc@lppi.ucsf.edu
authors: Benjamin N R
authors: BN
authors: Cheyette
authors: Sarah N R
authors: SN
authors: Cheyette
authors: Kristina
authors: K
authors: Cusmano-Ozog
authors: Gregory M
authors: GM
authors: Enns
mesh_terms: D002230:Carbidopa / Q000627:therapeutic use*; D002675:Child, Preschool; D018491:Dopamine Agonists / Q000627:therapeutic use*; D004338:Drug Combinations; D020821:Dystonic Disorders / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D006136:GTP Cyclohydrolase / Q000235:genetics*; D020233:Gait Disorders, Neurologic / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D018491:Dopamine Agonists; D004338:Drug Combinations; C009265:carbidopa, levodopa drug combination; D007980:Levodopa; D006136:GTP Cyclohydrolase; D002230:Carbidopa