先天性肌无力综合征：7例西西里患者的临床及分子报告
Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients.
作者信息
Pavone Piero, Polizzi Agata, Longo Maria Roberta, Romano Katia, Vecchio Michele, Praticò Andrea D, Falsaperla Raffaele
机构信息
Department of Pediatric and Pediatric Neurology, Azienda Ospedaliera Universitaria OVE-Policlinico, University of Catania, Catania, Italy.
出版信息
J Pediatr Neurosci. 2013 Jan;8(1):19-21. doi: 10.4103/1817-1745.111416.
BACKGROUND
Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases involving neuromuscular transmission. The classification of these syndromes is based on the localization of the defect (pre-synaptic, post-synaptic, and neuromuscular junction) and on the molecular analysis.
AIM
To report on a series of 7 patients affected by post-synaptic CMS.
PATIENTS AND METHODS
We examined sex, familiarity, age of onset, clinical symptoms, and response to tensilon test, patellar and pupillary reflexes, presence of cranial nerve involvement, Gowers' sign, presence of ptosis, grade of muscular weakness, and response to the treatment and gene deletions.
RESULTS
Ptosis, muscular hypotonia, and light variability in muscular weakness were the main clinical signs. Cholinergic receptor, nicotinic, epsilon (CHRNE) gene mutations were mainly reported.
CONCLUSIONS
The study points out that the clinical and molecular pattern reported in our patients do not differentiate from the data reported in the literature. Treatment with pyridostigmine and modulation of the therapy allows a good quality of life.
背景
先天性肌无力综合征（CMS）是一组涉及神经肌肉传递的异质性疾病。这些综合征的分类基于缺陷的定位（突触前、突触后和神经肌肉接头）以及分子分析。
目的
报告一系列7例受突触后CMS影响的患者。
患者与方法
我们检查了性别、家族史、发病年龄、临床症状、对腾喜龙试验的反应、髌反射和瞳孔反射、是否存在颅神经受累、Gowers征、是否存在上睑下垂、肌无力程度以及对治疗的反应和基因缺失情况。
结果
上睑下垂、肌张力减退和肌无力轻度波动是主要临床体征。主要报告了胆碱能受体、烟碱型、ε（CHRNE）基因突变。
结论
该研究指出，我们患者中报告的临床和分子模式与文献中报告的数据无差异。吡啶斯的明治疗和治疗调整可使生活质量良好。
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