Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report

SAGE OPEN MEDICAL CASE REPORTS(2024)

引用 0|浏览1
暂无评分
摘要
Becker muscular dystrophy is caused by DMD mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in mutations and environmental factors. In this case, two brothers, aged 2 and 3 years, had the identical DMD mutation, confirming their Becker muscular dystrophy diagnosis. They began using handrails when ascending and descending stairs at the age of 16 due to progressive muscular weakness. Over an 18-year follow-up, the older brother consistently had high serum creatine kinase levels, significantly over median levels. Muscle computed tomography finings revealed that the older brother's gluteus maximus and vastus femoris cross-sectional areas were only half and one-third of the younger brother's, respectively. The mean computed tomography values of gluteus maximus and vastus femoris were significantly lower in the older brother. Our report suggests that muscle atrophy in Becker muscular dystrophy cannot be solely explained by dystrophin mutation or environmental factors.
更多
查看译文
关键词
Becker muscular dystrophy,creatine kinase,muscle computed tomography,gluteus maximus,vastus femoris,atrophy,urinary titin
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要