Document Details Document Type : Article In Journal  Document Title : Misdiagnoses in Children With Doparesponsive Dystonia خطأ التشخيص عند الأطفال المصابين بخلل التوتر المستجيبة لمادة دوبا   Subject : Pediatric Neurology  Document Language : English  Abstract : Dystonia is a state of continuous contraction of groups of agonist and antagonist muscles resulting in a sustained abnormal posture. Dopa-responsive dystonia was first described in 1976 by Segawa. Patients typically have diurnal variation of their symptoms with worsening at the end of the day and a dramatic response to low-dose L-dopa. This report presents five consecutive children with dopa-responsive dystonia who were misdiagnosed initially as spastic diplegic cerebral palsy, intractable epilepsy, hereditary spastic paraplegia, or a neurodegenerative disorder. There were two males and three females aged 3-13 years (mean 8.6 years). They were monitored for up to 2 years (mean 14.8 months). One had focal, one axial, one segmental, and two generalized dystonia. The dystonia was paroxysmal in two (tiptoe walking and opisthotonus), and all had a progressive course. All children responded dramatically to L-dopa (mean 200 mg/day), including three who were wheelchair-bound for several years. The difficulties in early diagnosis, variability of clinical presentation, and dramatic response to L-dopa will be illustrated. To conclude, dopa-responsive dystonia should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, because it responds so dramatically to L-dopa  ISSN : 8878994  Journal Name : Pediatric Neurology  Volume : 31  Issue Number : 4  Publishing Year : 1425 AH 2004 AD  Article Type : Article  Added Date : Monday, March 10, 2008  Researchers Researcher Name (Arabic) Researcher Name (English) Researcher Type Dr Grade Email , Researcher     محمد جان Jan, Mohammed Researcher Doctorate   Files File Name Type Description  Dystonia.pdf pdf مشاهدة المقالة العلمية كاملة Back To Researches Page