Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades, and upper arms are among the most affected.

面肩肱型肌营养不良症（下面简称FSHD），是一种遗传性肌肉疾病，主要影响面，肩，上臂，表现为肌无力和肌肉萎缩。 因为特征性的翼状肩胛，也被称为小飞侠病。 FSHD一般发病于青年期（adolescence），病程因人而异，约20%的患者在50岁之前会失去行走能力 1。 FSHD目前没有有效的治疗手段。 FSHD是一种常染色体显性疾病，最初被发现和4号染色体中的D4Z4重复的多态性相关。 健康人D4Z4重复在11-150范围内。 FSHD有两种亚型，FSHD1占95%，仅由D4Z4 …

Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness.

2023年12月6日 · Facioscapulohumeral muscular dystrophy (FSHD) is an inherited disease that often affects muscles in your face and upper body but can spread to any muscle in your body. Symptoms typically develop between adolescence and age 20 to 30. There’s no cure for FSHD, but there are therapies to ease your symptoms and help you keep up your quality of life.

Facioscapulohumeral muscular dystrophy, or FSHD, is a genetic disorder that leads to the weakening of skeletal muscles. Typically beginning in early teenage years with the loss of muscles in the face (facio), shoulders (scapula), upper arms (humerus), legs or core, FSHD can spread to any muscle. Around 20 percent will need a wheelchair by age 50.

2023年6月26日 · Facioscapulohumeral muscular dystrophy (FSHD) is a genetic illness inherited in an autosomal dominant fashion that affects skeletal muscle tissue in affected individuals. Muscle groups involved include those of the face, shoulder girdle, …

小儿面肩肱型肌营养不良（FSHD）是一种遗传性肌肉疾病，受其影响最严重的是脸、肩、上臂等部位的肌肉。 FSHD名字来自以下三个部分：facies，在拉丁语和医学词汇中代表脸的意思；scapula，在拉丁语和解剖学词汇中代表肩的意思；humerus，在拉丁语和解剖学词汇中代表从肩到肘的骨骼部分（即为肱骨）。 肌肉营养不良意味着缓慢进展的肌肉变性，伴随着逐渐加重的肌力减退以及肌肉的萎缩（体积减小）。 在FSHD中，首先影响脸、肩和上臂，并且程度最严重。 …

FSHD usually begins before age 20, but it can begin as early as infancy and as late as the 50s. Often, the initial symptoms include weakness and atrophy of the muscles around the eyes and mouth, shoulders, upper arms, and lower legs. Weakness can spread to the abdominal and back muscles as well as the hips and upper legs.

FSHD患者表现为躯体上部进行性肌力减退及骨骼肌减少。 少部分患者由于 视网膜动脉病变 导致失明。 研究发现该病的基因异常位于4号染色体近末端的 4q35位点。 婴儿型FSHD的临床症状更重，常合并耳聋、视力障碍及癫痫。 面肩肱型肌营养不良虽然发展速度慢，但是伴随逐渐肌肉力气减弱、肢体僵硬、肌肉麻木，局部出现轻度肌肉萎缩。 首先出现在肩部、面部、肢体等部位肌肉无力、萎缩。 在日常生活中，很多面肩肱型肌营养不良患者反应说：经常出现肌肉疼麻木感，肢 …

2025年2月4日 · BetterLife FSHD is a pioneering research platform dedicated to empowering people living with Facioscapulohumeral Muscular Dystrophy (FSHD). As FSHD research advances, and more therapies are being developed, it is more important than ever for patients to be actively involved in research, in their own care, and in advocacy.