Abstract：
BACKGROUND: Early-onset facioscapulohumeral muscular dystrophy (FSHD) is defined as facial weakness before the age of 5 and shoulder weakness before the age of 10. Early-onset facioscapulohumeral muscular dystrophy is relatively rare in the clinic. This onset is relatively early, the symptoms are serious, and it is likely to be accompanied by retinal vascular disease, sensorineural deafness, epilepsy and other extramuscular multisystem diseases. We report the clinical characteristics of 2 patients with early-onset facial and shoulder brachial muscular dystrophy to improve clinicians\' understanding of this particular condition.
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.
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.
摘要：
背景：早发性面肩肱型肌营养不良症（FSHD）定义为5岁之前的面部无力和10岁之前的肩部无力。早发性面肩肱肌营养不良在临床上相对罕见。这种发病相对较早，症状很严重,很可能伴有视网膜血管疾病，感觉神经性耳聋,癫痫和其他肌外多系统疾病。我们报告了2例早发性面部和肩臂肌营养不良患者的临床特征，以提高临床医生对这种特殊情况的认识。
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。
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。
