کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3084340 1581267 2016 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa
ترجمه فارسی عنوان
چه چیزی در نام نیست؟ دیاستونی پاسخگو به DOPA می تواند بیشتر از L-Dopa پاسخ دهد
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
چکیده انگلیسی

BackgroundClassic L-dopa–responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of dopa-responsive dystonia as a diagnostic end without molecular and/or biochemical definition may contribute to misdiagnosis and incomplete treatment in dopa-responsive conditions that impair synthesis of monoamine neurotransmitters besides dopamine.Patient DescriptionWe describe and provide video for twin patients with a rare form of dopa-responsive dystonia due to sepiapterin reductase deficiency. As is typical in dopa-responsive dystonia, these patients displayed dramatic improvement with L-dopa/carbidopa therapy. However, treatment was suboptimal until 5-hydroxytryptophan was added to address their serotonergic deficit.DiscussionOur report highlights the limitations of the dopa-responsive dystonia label and increases awareness of sepiapterin reductase deficiency and other conditions that may present as dopa-responsive dystonia. We provide a diagnostic and therapeutic approach to guide the clinician in evaluating and treating individuals with dopa-responsive dystonia.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 59, June 2016, Pages 76–80
نویسندگان
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