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はじめに
骨系統疾患とは,骨や軟骨の形成異常,骨化障害,あるいは代謝障害によって,全身的な骨格に形態的および構造的な異常をきたす骨疾患の総称であり,最新の2010年版国際分類には40グループ456疾患が収められている1,2).個々の疾患の患者数は少ないが総数は多いと考えられ,日本整形外科学会が行っている全国登録では,1990年から2011年で4873人が登録され,中でも骨形成不全症と軟骨無形成症の登録数が多い(図1).しかし骨系統疾患患者に対するリハビリテーション(以下,リハ)の研究は少なく,また代表的な教科書にもほとんど取り上げられていない.小児リハの教科書でも,一部の教科書に骨形成不全症が取り上げられているのみで3),多くはわずかな記述に留まる4).しかし多くの骨系統疾患患者は成人になり,社会生活の中で新たな問題を抱えることもある5,6).われわれが外来で診療している骨系統疾患患者も約半数は成人であり,小児期から成人後までを見越した診療が必要である.本総説では,患者数の多い軟骨無形成症と骨形成不全症の障害とリハについて述べる.
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.
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