四肢带状肌营养不良2I患者心脏和呼吸功能衰竭  

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I

作　　者：Poppe M. Bourke J. Eagle M. K. Bushby 黄卫东 

机构地区：[1]Institute of Human Genetics, International Centre for Life,Central Parkway, Newcastle upon Tyne NE1 3BZ, United KingdomDr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第4期13-14,共2页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Mutations in the gene encoding fukutin- related protein cause limb- girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure. Heterozygotes for the common C826A mutation developed cardiac involvement earlier than homozygotes. All patients initially improved while receiving standard therapy. Independent of cardiac status, forced vital capacity was below 75% in 44.4% of the patients. There was no absolute correlation between skeletal muscle weakness and cardiomyopathy or respiratory insufficiency. These complications are a primary part of this specific type of limb- girdle muscular dystrophy, with important implications for management.Mutations in the gene encoding fukutin- related protein cause limb- girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure. Heterozygotes for the common C826A mutation developed cardiac involvement earlier than homozygotes. All patients initially improved while receiving standard therapy. Independent of cardiac status, forced vital capacity was below 75% in 44.4% of the patients. There was no absolute correlation between skeletal muscle weakness and cardiomyopathy or respiratory insufficiency. These complications are a primary part of this specific type of limb- girdle muscular dystrophy, with important implications for management.

关 键 词：带状肌 呼吸功能衰竭 肌无力 最大肺活量 心肌病 基因突变 规范化治疗 纯合子 心功能 杂合子 

分 类 号：R746[医药卫生—神经病学与精神病学]