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Rare Neurological Diseases: an Overreview of Pathophysiology, Epidemiology, Clinical Features and Pharmacoeconomic Considerations in the Treating

Abstract Rare diseases (RD) are serious chronic diseases affecting small number of people compared to the general population. There are between 6000 and 8000 RDs, which affect about 400 million people worldwide. Drugs used for causal treatment of RDs are called orphan drugs. RDs bear great clinical and economic burden for patients, their families, healthcare systems and society overall. There are at least two reasons for the high cost of treatment of RDs. First, there is no causal therapy for majority of RDs, so exacerbations, complications, and hospitalizations in those patients are common. The second reason is high price of available orphan drugs, which are not cost-effective when traditional pharmacoeconomic evaluation is employed. The pharmacoeconomic aspect of the treatment of RDs is especially important in the field of neurology, since at least one fifth of all RDs is composed of neurological conditions. The aim of this paper was to provide a concise overview of the pathophysiological, epidemiological and clinical characteristics of some of the most important and common rare neurological diseases, with special reference to their impact on society and economy.