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Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review
Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia presenting in early life and exhibits a robust and sustained response to levodopa treatment. DRD is one of the treatable dyst...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078628/ https://www.ncbi.nlm.nih.gov/pubmed/33936308 http://dx.doi.org/10.4103/jpn.JPN_74_19 |
Sumario: | Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia presenting in early life and exhibits a robust and sustained response to levodopa treatment. DRD is one of the treatable dystonia syndromes of childhood. It starts with the involvement of lower limb and associated with characteristic diurnal variation. Many times it is misdiagnosed as cerebral palsy due to selective lower limb preference. We report a series of three cases of DRD which were previously misdiagnosed. The first case presented as myelopathy and other two were diagnosed as cerebral palsy. It is a treatable condition with very good response to drugs. Early diagnosis and adequate therapy can prevent from catastrophic complications. |
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