Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation
نویسندگان
چکیده
منابع مشابه
DOPA RESPONSIVE DYSTONIA: A CASE REPORT
Dopa responsive dystonia (DRD) is a dystonic syndrome of childhood, usually affecting gait and subsequently developing into parkinsonism with a dramatic therapeutic response to levodopa. At the best of our recollection this is the first case in Iranian medical literature of a 13 year old boy, affected by this interesting, rare and treatable disease which can be easily diagnosed if clinicia...
متن کاملDopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-FP-CIT) binding ratios indicative of Parkinson's disease. We conclude that the patient probably suffers from a variant of dopa-responsiv...
متن کاملDopa responsive dystonia.
There may be insufficient awareness of dopa responsive dystonia (DRD), which has a characteristic diurnal variation of symptoms. Two children are reported in whom the diagnosis of DRD was missed. The first was thought to have hysteria and the second hereditary spastic paraparesis. A full history is vital for the diagnosis of this important treatable syndrome.
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Epilepsy is a common neurologic disorder affecting approximately 1% of the population. The prevalence of active epilepsy in Kerman,Iran is 7.87/1000 individuals. The past decade has brought many advances to the treatment of epilepsy, including many new pharmacological agents. Lamotrigine is one of the new antiepileptic drugs. Lamotrigine has many side effects; the most important of which are al...
متن کاملDopa-responsive Dystonia in Children.
Treatment of dopa-responsive dystonia is one of the more satisfying experiences in clinical neurology. The response to treatment with levodopa is usually dramatic and complete with no long-term complications. Carbidopa/levodopa is the mainstay in treating dopa-responsive dystonia. There is some experience using anticholinergic agents, but they are more likely to cause side effects and do not tr...
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ژورنال
عنوان ژورنال: Neurologia i Neurochirurgia Polska
سال: 2017
ISSN: 0028-3843
DOI: 10.1016/j.pjnns.2016.07.013