Hageman G, Smit L M, Hoogland R A, Jennekens F G, Willemse J
J Pediatr Orthop. 1986 Mar-Apr;6(2):227-31. doi: 10.1097/01241398-198603000-00021.
A case of nonautoimmune, prenatal-onset, congenital myasthenia with congenital contractures including camptodactyly is presented. The clinical features re identical to those in three previously reported cases. In this form of congenital myasthenia, the muscle weakness and congenital contractures may resolve completely after conservative treatment, including anticholinesterase medication. Diagnosis can be made by the characteristic clinical history, neurological assessment, and electromyography with repetitive nerve stimulation.
本文报告了一例非自身免疫性、产前发病、伴有先天性挛缩(包括屈曲指)的先天性肌无力病例。其临床特征与之前报道的三例病例相同。在这种先天性肌无力形式中,肌肉无力和先天性挛缩在包括抗胆碱酯酶药物治疗在内的保守治疗后可能完全缓解。可通过特征性的临床病史、神经学评估以及重复神经刺激的肌电图检查做出诊断。