R4型β肌聚糖相关性肢带肌营养不良

定义 英文原文（暂无中文）

A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

别名

β-肌聚糖病缺乏所致肢带型肌营养不良症

基本事实

遗传方式

常染色体隐性

发病年龄

青少年期、儿童期

患病率

<1 / 1 000 000（United Kingdom）

相关基因 1

临床表型 13

外部标识与链接