Ceylan A, Tuncer O, Sayin R, Peker E, Caksen H, Sari S
Yuzuncu Yil University, Faculty of Medicine, Department of Pediatrics, Van, Turkey.
Genet Couns. 2011;22(1):75-8.
Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays.
先天性肌无力综合征（CMS）是神经肌肉接头疾病。它们通常属于始于婴儿期或儿童期且具有遗传特征的疾病组。以下在确立该疾病的诊断中很重要：临床表现、肌电图、基因检测、血清乙酰胆碱受体抗体测定。乙酰胆碱酯酶抑制药物用于治疗CMS。一名7个月大的男性患者因呼吸困难、眼睑下垂和吞咽困难的主诉被带到我们科室。根据临床和实验室检查结果，他被诊断为先天性肌无力并开始治疗。对于体格检查无病理发现且胸部X线正常的患者，应怀疑患有CMS。
