Introduction

Although rare diseases (RDs) are highly heterogeneous in etiology, clinical presentation, and clinical management strategies, they share commonalities related to their rarity: a lack of knowledge and scarcity of expertise.

The scarcity of expertise about RDs among many physicians is probably one of the reasons for the often-bemoaned diagnostic odyssey that many individuals with RDs experience: it has been estimated that the average time for accurate diagnosis of an RD is 4-5 years, with the diagnosis being delayed over a decade in some cases. The same factors that delay diagnosis also delay proper disease management even after a diagnosis has been made; often available therapies are identified only after the therapeutic window has passed.

Comprehensive, structured, expert-compiled references already present in the literature are rare. Also, many rare diseases are so rare, that scant published information exists about treatment options. MAxO annotations, therefore, are not limited to expert guidelines, but instead intend to make published information about treatment available, even if a publication only presents a case report or describes a small number of affected individuals. It can be useful for physicians and patients to be able to easily review all available information to make informed decisions about clinical management.

MAxO contents

The upper level of MAxO comprises six categories of medical actions: diagnostic procedure, preventative therapy, therapeutic procedure, medical action avoidance, palliative care, and complementary & alternative medical therapy. MAxO is intended to include any medical actions used in the diagnostics and treatment of the patient. If any terms are missing, please add suggestions on the MAxO annotations GitHub Issue tracker.