Orphan and rare diseases in neurosurgery: invitation to discussion

Abstract

Orphan diseases are overall a relatively new actual problem for neurosurgery because of their huge medico-social importance. This review illustrates the major characteristics of orphan diseases in neurosurgery, gives the definitions and presents statistical and epidemiological data on rare diseases encountered in neurosurgical practice. Legal framework for orphan diseases has been comparatively analysed and the list of rare diseases in neurosurgery has been made. The main problems related to patients’ access to specialized medical care, including neurosurgical treatment are discussed and their possible solutions are proposed. Based on the presented data we emphasize the need for developing a national strategy for rare diseases management, that may promote the decrease in mortality and morbidity of patients, namely with neurosurgical pathology.