Neurology, Cairns Hospital, Cairns, Queensland, Australia
Neurology, Cairns Hospital, Cairns, Queensland, Australia.
Pract Neurol. 2024 May 29;24(3):238-240. doi: 10.1136/pn-2023-003945.
Slowly progressive neuromuscular symptoms often have a genetic basis. We present the case of a woman in her 40s with gradually progressive symmetrical weakness and respiratory muscle involvement. Extensive investigation found no specific cause. After a novel neuromuscular gene panel became available, we identified a mutation in the gene (muscle-specific kinase), confirming a diagnosis of congenital myasthenic syndrome. This group of rare disorders are caused by mutations in genes encoding the neuromuscular junction.
进展缓慢的神经肌肉症状通常具有遗传基础。我们报告了一位 40 多岁女性的病例，她逐渐出现对称性无力和呼吸肌受累。广泛的检查未发现明确病因。新型神经肌肉基因面板问世后，我们在 基因（肌肉特异性激酶）中发现了一个突变，确诊为先天性肌无力综合征。这组罕见疾病是由编码神经肌肉接头的基因突变引起的。
