Rehabilitation for Pediatric and Adult Patients with Skeletal Dysplasias / The Japanese Journal of Rehabilitation Medicine

ABSTRACT

Skeletal dysplasias are developmental disorders of chondro-osseous tissue, and include 456 disorders according to "Nosology and Classification of Genetic Skeletal Disorders 2010 Revision". Research on the rehabilitation for patients with skeletal dysplasias is scarce, but many patients experience various kinds of disabilities throughout their lives. Achondroplasia is a representative disorder manifesting short stature. In childhood, muscle hypotonia leads to delayed motor development. Individuals with achondroplasia may need support for their ADL, mainly ambulation. Though discussion exists as to whether short stature itself is a disability, growth hormone treatment and limb lengthening surgery are performed in some patients and patients undergoing the latter require postoperative physiotherapy. Leg deformities associated with knee joint laxity are refractory to brace treatment and treated with tibial osteotomies to prevent progression to osteoarthritis in some patients. In adulthood, spinal canal stenosis is a matter of great concern. Kyphosis at the thoracolumbar junction is a risk factor for early development of clinical symptoms, and must be prevented with posture management and spinal orthoses, if necessary, from childhood on. Osteogenesis imperfecta is a representative disorder manifesting bone fragility. Bone fragility constitutes a vicious cycle with fractures, fixation and reduced weight bearing as their treatment. A multidisciplinary approach to break this vicious cycle is mandatory, including orthoses and/or surgery to treat fragility/deformity of long bones and spinal deformities, medication for bone fragility, and rehabilitation to prevent fractures and improve ambulatory status. In rehabilitation planning, it is important to set an appropriate goal in ambulation.