Document Details Document Type : Article In Journal  Document Title : Misdiagnoses in Children with Dopa-responsive Dystonia. التشخيص الخاطئ لشد وتوتر العضلات   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 paper 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 2 males and 3 females aged 3-13 years (mean 8.6). They were followed for up to 2 years (mean 14.8 months). One had focal, 1 axial, 1 segmental, and 2 generalized dystonia. The dystonia was paroxysmal in 2 (tiptoe walking and opisthotonus) and all had a progressive course. All children responded dramatically to L-dopa (mean 200 mg/day) including 3 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 : 0379-5284  Journal Name : Pediatric Neurology  Volume : 4  Issue Number : 31  Publishing Year : 2004 AH 2004 AD  Article Type : Article  Added Date : Saturday, March 13, 2010  Researchers Researcher Name (Arabic) Researcher Name (English) Researcher Type Dr Grade Email محمد جان jan, Mohammed Researcher Doctorate   Files File Name Type Description  25915.doc doc   Back To Researches Page