Dopa-Responsive Dystonia Presenting as Delayed and Awkward Gait
| Autor: | Kristina Cusmano-Ozog, Gregory M. Enns, Benjamin N.R. Cheyette, Sarah R. Cheyette |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Disease Bioinformatics medicine.disease_cause Levodopa Developmental Neuroscience Dopamine Internal medicine medicine Humans Toddler Allele GTP Cyclohydrolase Gait Disorders Neurologic Dystonia Mutation business.industry Carbidopa medicine.disease Gait Penetrance Pedigree nervous system diseases Drug Combinations Endocrinology Neurology Dystonic Disorders Child Preschool Dopamine Agonists Pediatrics Perinatology and Child Health Neurology (clinical) business medicine.drug |
| Zdroj: | Pediatric Neurology. 38:273-275 |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/j.pediatrneurol.2007.12.005 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect