Kvirtia Luka, Gagnidze Salome, Tatishvili Nana, Lomsianidze Mariam
Medicine, David Tvildiani Medical University, Tbilisi, GEO.
Pediatric Neurology, M. Iashvili Children's Central Hospital, Tbilisi, GEO.
Cureus. 2024 Oct 19;16(10):e71874. doi: 10.7759/cureus.71874. eCollection 2024 Oct.
Congenital myasthenic syndromes (CMS) comprise a group of inherited disorders that impair signal transduction as well as the structural integrity of the neuromuscular junction. Since there are several gene mutations associated with CMS, including the rare GFPT1 gene, the clinical presentation of this condition is quite variable. Importantly, patients with the same genotype can exhibit different clinical features. CMS type 12, as seen in our patient, is characterized by weakness of the limb-girdle muscles, which was anticipated with scoliosis. It is important to note that scoliosis is not generally linked to the GFPT1 mutation, and based on our case, it contributed to a broader and more complex clinical presentation.
先天性肌无力综合征（CMS）是一组遗传性疾病，会损害神经肌肉接头处的信号转导以及结构完整性。由于有几种与CMS相关的基因突变，包括罕见的GFPT1基因，这种疾病的临床表现差异很大。重要的是，具有相同基因型的患者可能表现出不同的临床特征。如我们的患者所患的12型CMS，其特征是肩胛带和骨盆带肌肉无力，预计会伴有脊柱侧弯。需要注意的是，脊柱侧弯一般与GFPT1突变无关，根据我们的病例，它导致了更广泛、更复杂的临床表现。
