Dopa-responsive dystonia in a ten-year-old girl.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24479026.
- Also identified by DOI 10.4103/2249-4863.104988 and PMC identifier PMC3172666.
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Abstract
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.