Haaker Gerrit, Fujak Albert
Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Appl Clin Genet. 2013 Nov 14;6(11):113-20. doi: 10.2147/TACG.S53615.
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN) protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach.
脊髓性肌萎缩症（SMA）是一种由有缺陷的“生存运动神经元”（SMN）蛋白引起的下运动神经元遗传性神经肌肉疾病，主要与近端进行性肌肉无力和萎缩相关。尽管SMA的疾病严重程度范围广泛，死亡率和发病率较高，但多学科支持性护理的最新进展提高了生活质量和预期寿命。自1995年确定致病基因缺陷以来，对可能的治疗方案进行积极研究已成为可能。然而，目前尚无因果疗法，SMA的治疗管理仍然具有挑战性；延长生存期正在增加，尤其是骨科、呼吸和营养问题。本综述重点关注该疾病的骨科管理，讨论包括脊柱侧弯、肌肉挛缩、髋关节疾病、骨折、技术设备以及保守治疗和手术治疗的比较方法等关键方面。还强调了相关并发症，包括呼吸受累、围手术期护理和麻醉、营养问题以及康复。通过在多学科治疗方法中采用既定的骨科程序进行充分治疗，SMA的病程可得到极大改善。
