<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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.</p>
</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.

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

Medical Faculty of the Military Medical Academy, Clinic of Neurology

Faculty of Medical Sciences, Department of Pharmacology and Toxicology

Experimental and Applied Biomedical Research (EABR)

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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...

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

Publicado en línea: 26 dic 2021

Páginas: -

Recibido: 07 jul 2021

Aceptado: 22 ago 2021

DOI: https://doi.org/10.2478/sjecr-2021-0049

Palabras clave
Rare diseases, Dravet syndrome, Tuberous sclerosis complex, Lennox-Gastaut syndrome, Angelman syndrome, Prader-Willi syndrome, Duchenne Muscular Dystrophy, Spinal muscular atrophy, orphan drugs, pharmacoeconomics

© 2020 Medo Gutic et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Publicado en línea: 26 dic 2021

Páginas: -

Recibido: 07 jul 2021

Aceptado: 22 ago 2021

DOI: https://doi.org/10.2478/sjecr-2021-0049

Palabras claveRare diseases, Dravet syndrome, Tuberous sclerosis complex, Lennox-Gastaut syndrome, Angelman syndrome, Prader-Willi syndrome, Duchenne Muscular Dystrophy, Spinal muscular atrophy, orphan drugs, pharmacoeconomics

© 2020 Medo Gutic et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Palabras clave
Rare diseases, Dravet syndrome, Tuberous sclerosis complex, Lennox-Gastaut syndrome, Angelman syndrome, Prader-Willi syndrome, Duchenne Muscular Dystrophy, Spinal muscular atrophy, orphan drugs, pharmacoeconomics