Villanova Marcello, Kazibwe Sifa
From the Neuromuscular Rehabilitation Unit, Nigrisoli Hospital, Bologna, Italy.
Am J Phys Med Rehabil. 2017 Feb;96(2):e28-e30. doi: 10.1097/PHM.0000000000000569.
We report a patient with a typical phenotype and clinical history of Duchenne muscular dystrophy who is currently 53 years old. Because of improvements in cardiopulmonary care, there has been a great improvement in survival and preservation of quality of life for many of these patients. Whereas it is no longer rare to find patients with Duchenne muscular dystrophy living into their fifth decade, this is the first report of a patient in his sixth decade of life. We believe that besides use of continuous noninvasive respiratory support, the fortuitous absence of dilated cardiomyopathy associated with the particular point mutation of his dystrophin gene has permitted prolonged survival.
我们报告了一名患有典型杜氏肌营养不良症表型和临床病史的患者，他目前53岁。由于心肺护理的改善，许多这类患者的生存率和生活质量都有了很大提高。虽然现在发现杜氏肌营养不良症患者活到五十多岁已不再罕见，但这是首例活到六十多岁患者的报告。我们认为，除了使用持续无创呼吸支持外，他的肌营养不良蛋白基因特定点突变未伴有扩张型心肌病这一偶然情况使得他得以长期存活。
