METHODS: We report 2 pediatric patients with FSHD type 1. Patient 1 is an 11-year-old boy with reduced facial expression for 9 years and proximal muscle weakness for 6 years. Patient 2 is a 4-year and 6-month-old girl with developmental delay for 3 years and facial weakness for 1 year.
METHODS: According to the clinical manifestations and molecular genetic testing (such as Southern blot analysis), the patients were diagnosed with early-onset FSHD1.
METHODS: The patients received cocktail therapy (vitamin B1 tablets, vitamin B2 tablets, vitamin B6 tablets, vitamin C tablets, vitamin E tablets, idebenone tablets, etc.) to improve their muscle metabolism.
RESULTS: Both patients\' condition did not improve after being given cocktail treatment. According to a recent follow-up, the symptoms of facial weakness and proximal muscle weakness were aggravated.
CONCLUSIONS: Early-onset FSHD presents early and has frequent systemic features, and it is a severe subtype of FSHD. Early identification and genetic diagnosis should be performed to improve patient prognosis.
方法:我们报告2例FSHD1型儿科患者。患者1是一个11岁的男孩,面部表情减少9年,近端肌肉无力6年。患者2是4岁零6个月大的女孩,发育迟缓3年,面部无力1年。
方法:根据临床表现和分子遗传学检测(如Southernblot分析),患者被诊断为早发型FSHD1.
方法:患者接受鸡尾酒疗法(维生素B1片,维生素B2片,维生素B6片,维生素C片,维生素E片,艾地苯醌片,等。)来改善他们的肌肉新陈代谢。
结果:两名患者在接受鸡尾酒治疗后病情没有改善。根据最近的随访,面部无力和近端肌无力的症状加重。
结论:早发性FSHD表现得较早,并具有频繁的系统特征,是一种严重的FSHD亚型.应进行早期识别和基因诊断以改善患者预后。