Kostova Felina V, Williams Virginia C, Heemskerk Jill, Iannaccone Susan, Didonato Christine, Swoboda Kathryn, Maria Bernard L
Medical University of South Carolina, Charleston, South Carolina, USA.
J Child Neurol. 2007 Aug;22(8):926-45. doi: 10.1177/0883073807305662.
Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder that affects the motor neurons responsible for movement of the proximal muscles of the trunk and body. To date, the disease can be classified into 3 main categories based on severity and age of onset. During the October 18th symposium held in Pittsburgh, Pennsylvania, researchers met to (1) describe current diagnostic strategies, (2) discuss recent thoughts on pathogenesis, (3) review current therapies and clinical trials, and (4) define future research directions. In her opening remarks, Dr Story Landis, director of the National Institute of Neurological Disorders and Stroke, emphasized the degree to which the Neurobiology of Disease in Children conference series has broadened awareness of the many rare diseases affecting children, not only through the advancement of research but also by educating practitioners about diagnostic strategies. Dr Landis also discussed the role this conference may play in fostering research that seeks to develop a single mechanism of therapy for spinal muscular atrophy. She also discussed the current funding situation at the National Institutes of Health and addressed the crucial function of volunteer research organizations that sponsor research in further improving management of this condition. This article summarizes the presentations and includes the verbatim edited transcript of question-and-answer sessions.
脊髓性肌萎缩症是一种常染色体隐性神经退行性疾病，会影响负责躯干和身体近端肌肉运动的运动神经元。迄今为止，根据严重程度和发病年龄，该疾病可分为三大类。在10月18日于宾夕法尼亚州匹兹堡举行的研讨会上，研究人员齐聚一堂，旨在：（1）描述当前的诊断策略；（2）讨论关于发病机制的最新观点；（3）回顾当前的治疗方法和临床试验；（4）明确未来的研究方向。美国国立神经疾病和中风研究所所长斯托里·兰迪斯博士在开幕致辞中强调，“儿童疾病神经生物学”系列会议不仅通过推动研究，还通过向从业者传授诊断策略，极大地提高了人们对多种影响儿童的罕见疾病的认识。兰迪斯博士还讨论了本次会议在促进旨在开发单一脊髓性肌萎缩症治疗机制的研究中可能发挥的作用。她还讨论了美国国立卫生研究院目前的资金状况，并谈到了赞助研究的志愿者研究组织在进一步改善该病管理方面的关键作用。本文总结了会议发言内容，并包括问答环节的逐字编辑记录。
