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Faculty of Medicine
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
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