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CASE REPORT
Year : 2012  |  Volume : 1  |  Issue : 2  |  Page : 151-152

Dopa-Responsive Dystonia in a Ten-Year-Old Girl


Department of Pediatrics, AVMC and H, Kirumampakkam, Puducherry, India

Correspondence Address:
Venkatesh Soma
Plot no: 5, Second Street, Jhansi Nagar, Puducherry - 605004
India
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DOI: 10.4103/2249-4863.104988

PMID: 24479026

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Children with recent onset dystonia and gait abnormalities may pose a diagnostic challenge. A ten-year-old, developmentally normal girl, presented with a six-month history of gait abnormality and dystonia. Her complaint worsened as the day progressed. In view of typical diurnal variation of dystonia, a therapeutic challenge with levodopa/carbidopa was given and there was a dramatic response. Hence, a diagnosis of dopa-responsive dystonia (DRD) was made. DRD is an inherited disorder characterized by dystonia with diurnal variation and favorable response to levodopa/carbidopa. The inheritance is usually autosomal dominant, however, in some cases, autosomal-recessive inheritance is also seen.


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