Lynch David R, Regner Sean R, Schadt Kimberly A, Friedman Lisa S, Lin Kimberly Y, St John Sutton Martin G
Department of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA.
Expert Rev Cardiovasc Ther. 2012 Jun;10(6):767-77. doi: 10.1586/erc.12.57.
The autosomal-recessive disorder Friedreich's ataxia is characterized by progressive ataxia, often in association with cardiomyopathy. The most frequent cause of death is cardiac dysfunction, reflecting congestive heart failure, ventricular arrhythmias and cardio-embolic stroke. With the discovery of the underlying genetic mutation, a variety of novel therapies are now progressing into clinical trials. Consequently, it is crucial to understand the features of cardiomyopathy in this disease and how new treatments may improve cardiac function. The present artcle reviews the molecular basis of the disease, the clinical features of cardiomyopathy in Friedreich's ataxia and the upcoming therapies.
常染色体隐性疾病弗里德赖希共济失调的特征是进行性共济失调，常伴有心肌病。最常见的死亡原因是心脏功能障碍，表现为充血性心力衰竭、室性心律失常和心源性栓塞性中风。随着潜在基因突变的发现，多种新型疗法目前正在进入临床试验阶段。因此，了解该疾病中心肌病的特征以及新疗法如何改善心脏功能至关重要。本文综述了该疾病的分子基础、弗里德赖希共济失调中心肌病的临床特征以及即将出现的疗法。
