| Autor: |
Venkatesh Soma, Hussain Sadiq Mohammed, Ebrahim Riyas, Karuppasamy Murugesan |
| Jazyk: |
angličtina |
| Rok vydání: |
2012 |
| Předmět: |
|
| Zdroj: |
Journal of Family Medicine and Primary Care, Vol 1, Iss 2, Pp 151-152 (2012) |
| Druh dokumentu: |
article |
| ISSN: |
2249-4863 |
| DOI: |
10.4103/2249-4863.104988 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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