Exercise and Physical Activity in Rare Bone Diseases: A Scoping Review of Evidence and Practice

Rare bone diseases (RBDs) are a group of conditions affecting cartilage, bones, soft tissue, and/or dentin, encompassing skeletal dysplasia’s and metabolic bone diseases.(1) There are currently 771 rare bone diseases accounting for approximately 5 % of all rare diseases. With a wide diversity of phenotypical characteristics and pathologies, RBD’s represent a challenging patient group for health care providers. (2). The European reference network on rare bone diseases ERN BOND (3) focuses on nine rare bone diseases. For the purpose of this review we will focus on adults and children with these nine diseases; Osteogenesis Imperfecta (OI), Achondroplasia (ACH), X-linked hypophosphatemia (XLH), Hypophosphatasia (HPP), Multiple osteochondromas (MO), Fibrous dysplasia/McCune-Albright syndrome (FD/MAS), Pseudohypoparathyroidism (PHP), Fibrodysplasia ossificans progressiva (FOP), Autosomal recessive hypophosphatemic rickets type 2 (ARHR2). Most individuals with RBDs have complex and heterogeneous physical health challenges which impact on their quality of life. There is a high prevalence of chronic pain and physical disability in this population which can negatively impact an individual’s ability to perform daily activities (4). As such maintaining and improving physical fitness is important for this cohort of patients. However, there is a paucity of evidence regarding specific training programmes and interventions. This scoping review aims to: 1) Identify the extent and breadth of current available evidence on exercise and physical activity programmes for people with rare bone diseases. 2) Identify outcome measures employed by previous studies on exercise and physical activity programmes for people with rare bone diseases.