This document provides a comprehensive summary of evidence on the current situation of
rare diseases (RDs) globally and regionally, including conditions, practices, policies, and …

As rare diseases often have an onset of symptoms in childhood, the burden of the disease
and associated challenges commonly fall to the individual's family members. Managing this …

Background This study measured sleep quality among caregivers of patients with Dravet
syndrome (DS) and assessed the impacts of mental health problems and caregiver burden …

Background Haemophilia A is a rare, hereditary haemorrhagic disease that manifests as
induced spontaneous bleeding and leads to disability or premature death in severe cases …

Abstract Background Rare bone diseases (RBDs) are a set of inherited rare diseases that
can cause disability and have a devastating impact on families affected, which may lead to a …

Background Rare disease patients often experience diagnosis delays or misdiagnosis,
which may be due to lack of knowledge on rare diseases among physicians. Objective To …

Problem Most rare diseases occur in childhood and are difficult to diagnose and treat. The
caregivers are faced with the challenge of providing care to the children afflicted with these …

Rare diseases, also known as orphan diseases, are a group of diseases that affect a
relatively small number of people. Low incidence rates, atypical symptoms, imperfect …

The article deals with one of the effects of health inequalities and gaps in access to
treatments for rare diseases, namely health-driven emigration. The purpose of the paper is …

The Mucopolysaccharidoses (MPSs) are a group of heterogenous disorders with complex
multisystemic presentations. Although Haematopoietic Cell Transplantation (HCT) and …