Dopa-responsive dystonia or Segawa disease in Ghana: a case report-Reference-Cited by-同舟云学术

Dopa-responsive dystonia or Segawa disease in Ghana: a case report

Published:2021-06-29 Issue:1 Volume:2 Page:202-204
ISSN:2704-4890
Container-title:Third Edition of the HSI Journal: Volume 2 Issue 1, 2021 Publication.
language:en
Short-container-title:HSI Journal

Author:

Badoe Ebenezer V

Abstract

Dystonias are rare in childhood and consist of variably sustained twisting deformation of a limb or parts of a trunk. Dystonias can be considered primary because of a genetic disorder or secondary due to a central nervous system injury like cerebral palsy or medications. The rare dopa-responsive dystonia is often mistaken for cerebral palsy, stroke, localized limb trauma or conversion disorder. The aim of this report is to increase the awareness of a rare but eminently treatable type of dystonia known as dopa–responsive dystonia or Segawa disease. In this report a young girl with dystonia who was severely disabled and could not attend school was misdiagnosed as cerebral palsy for two years. After treatment with low dose L-dopa within 48 hours, a dramatic and sustained response with restoration of foot dystonia and mobility was observed. Recognition of L-dopa dystonia facilitates proper treatment and significant improvement in quality of life

Publisher

University of Ghana

Subject

General Medicine

Reference8 articles.

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3. 2. Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L, Pannacci M, Invernizzi F, Garavaglia B (2003) Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. Neurology 60:335–337. https://doi.org/10.1212/01.WNL.0000044049.99690.AD

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