Muscular Dystrophy
Muscular Dystrophy
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肌营养不良症
DOI：
10.1007/978-981-15-8171-7_8
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Taniguchi-Ikeda Mariko
中科院分区：
文献类型：
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作者：
Nagasaka Miwako;Taniguchi-Ikeda Mariko
肌萎缩症是一种主要的顽固性遗传性神经肌肉疾病。由于呼吸衰竭和心脏并发症，某些类型的肌肉萎缩症患者的预期寿命缩短。已知有50多种基因导致肌肉萎缩症，患者的预后根据疾病的类型和发病年龄而变化。父母中的一方或双方通常是导致这种疾病的基因突变的携带者。尽管在世界范围内进行了广泛的研究和临床试验，但目前很少有根治方法可用。另一方面，随着基因诊断测试的进步和对某些类型肌肉萎缩症的有希望的治疗方法，对已经有肌肉萎缩症儿童或家庭成员患有肌肉萎缩症的夫妇进行肌肉萎缩症产前诊断的需求越来越大。在本章中，我们将讨论三种最著名的肌肉营养不良症的产前基因检测，即肌强直性营养不良症、杜氏肌营养不良症和福山先天性肌肉营养不良症。
Muscular dystrophy is one of the main intractable, inherited neuromuscular diseases. Owing to respiratory failure and cardiac complications, the life expectancy of patients is shortened in certain types of muscular dystrophies. More than 50 genes are known to cause muscular dystrophy, and the prognosis of patients varies according to the type and the age of onset of the disease. One parent or both parents are usually carriers of the genetic mutation that causes the disease. Despite the extensive research and clinical trials being performed worldwide, few radical treatments are available at present. On the other hand, with the advancements in genetic diagnostic tests and promising treatments for some types of muscular dystrophies, there is an increasing need for the prenatal diagnosis of muscular dystrophies in couples who already have a child with muscular dystrophy, or have a family member with muscular dystrophy. In this chapter, we discuss prenatal genetic tests for the three most well-known muscular dystrophies, namely, myotonic dystrophy, Duchenne muscular dystrophy, and Fukuyama congenital muscular dystrophy.