AOC (Atlantique-Occitanie-Caraïbe) Reference Centre for Neuromuscular Disorders, Neuropaediatric Department, Toulouse University Hospital, Toulouse, France.
CMR Neuromusculaire PACARARE, Hôpitaux Pédiatriques de Nice CHU - Lenval, Nice, France.
Arch Pediatr. 2020 Dec;27(7S):7S18-7S22. doi: 10.1016/S0929-693X(20)30272-4.
Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia. The consequences of motor neuron degeneration are functional and orthopaedic, respiratory, nutritional, socio-professional, and psychological. The implementation of standardized care (i.e., standard of care recommendations) has improved the quality of life and survival outcome of patients. The emergence of innovative therapies, some of which are now available, should further improve the clinical evolution of this disease. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
婴儿型脊髓性肌萎缩症（SMA）Ⅱ型有时被称为中间型 SMA，以表示疾病的严重程度。通常，精神运动发育直到 6 至 8 个月时是正常的，可获得稳定的坐姿。早期症状为肌肉无力，主要影响下肢，全身肌张力低下且反射消失。运动神经元变性的后果是功能性和矫形学、呼吸、营养、社会职业和心理方面的。实施标准化护理（即护理标准建议）提高了患者的生活质量和生存结果。创新疗法的出现，其中一些已经可用，应该进一步改善这种疾病的临床演变。© 2020 法国儿科学会。由 Elsevier Masson SAS 出版。保留所有权利。
