脊髓性肌萎缩症：最新进展

Spinal muscular atrophy: an update.

作者信息

Chang Tracy, Gieron-Korthals Maria

机构信息

Department of Pediatrics, University of South Florida, Tampa, Florida 33606, USA.

出版信息

Fetal Pediatr Pathol. 2011;30(2):130-6. doi: 10.3109/15513815.2010.524692.

DOI:10.3109/15513815.2010.524692

PMID:21391754

Abstract

Spinal muscular atrophy (SMA) is the most common childhood neurodegenerative disease. We report an infant with SMA type 1 and discuss the recent developments in SMA genetics, pathophysiology, and possible treatment options. Because SMA type 1 remains a fatal illness for which there is not yet a cure, the focus of patient care continues to be symptomatic. Thus, the most appropriate aspects of care at present and future are also discussed.

摘要

脊髓性肌萎缩症（SMA）是最常见的儿童神经退行性疾病。我们报告了一名1型SMA婴儿，并讨论了SMA遗传学、病理生理学的最新进展以及可能的治疗选择。由于1型SMA仍然是一种致命疾病且尚无治愈方法，患者护理的重点仍然是对症治疗。因此，还讨论了当前和未来护理中最适当的方面。