Fisiologia Humana, Universidade Estadual de Maringá, Maringá, PR, Brazil.
J Pediatr (Rio J). 2010 Jul-Aug;86(4):261-70. doi: 10.2223/JPED.1988.
To report on recent genetic and molecular discoveries and on future prospects for the treatment of spinal muscular atrophy (SMA), thereby helping healthcare professionals to make a quick diagnosis and provide appropriate and timely therapeutic support.
Information was collected from scientific articles published in the last 2 decades, retrieved from the databases SciELO, PubMed, and MEDLINE.
SMA is a neurodegenerative disorder with autosomal recessive genetic heredity. It is caused by a homozygous deletion of the survival motor neuron (SMN1) gene. This genetic alteration results in reduced levels of the SMN protein, leading to degeneration of alpha motor neurons of the spinal cord and resulting in muscle weakness and progressive symmetrical proximal paralysis. It is known that basic nutritional and respiratory care and physiotherapy can be important to delaying disease progression and prolonging patients' lives. Several drugs are being tested, some new, others, such as valproic acid, already known; paralysis can be halted, but not reversed.
SMA is a difficult to diagnose disorder, because it is little known, and treatment is uncertain. Pharmacological treatments and supportive therapies are not yet able to recover motor neurons or muscle cells that have already been lost, but are aimed at delaying disease progression and improving patients' residual muscle function, as well as offering better quality of life and life expectancy.
报告脊髓性肌萎缩症（SMA）的最新遗传和分子发现以及未来的治疗前景，帮助医疗保健专业人员快速诊断，并提供适当和及时的治疗支持。
信息来源于过去 20 年发表的科学文章，从 SciELO、PubMed 和 MEDLINE 数据库中检索。
SMA 是一种常染色体隐性遗传的神经退行性疾病。它是由生存运动神经元（SMN1）基因的纯合缺失引起的。这种遗传改变导致 SMN 蛋白水平降低，导致脊髓α运动神经元变性，导致肌肉无力和进行性对称近端瘫痪。众所周知，基本的营养和呼吸护理以及物理疗法对于延缓疾病进展和延长患者寿命非常重要。目前正在测试几种药物，有些是新的，有些则是已有的药物，如丙戊酸；瘫痪可以停止，但不能逆转。
SMA 是一种难以诊断的疾病，因为它知之甚少，治疗也不确定。药物治疗和支持性治疗尚不能恢复已经丧失的运动神经元或肌肉细胞，但旨在延缓疾病进展，改善患者残留的肌肉功能，提高生活质量和预期寿命。
