Objective To explore the clinical characteristics,pathogenesis,diagnosis and treatment of neuromyotonia(NMT).Methods A case of NMT in the Department of Neurology,the Eighth Medical Center of PLA General Hospital in October 2023 was selected,the clincal data of patients were analyzed retrospectively,and the literature reports of NMT patients published in China from March 2014 to March 2024 were reviewed.Results The patient was a 15-year-old female,whose main symptoms were pain and weakness in bilateral lower limbs,accompanied by muscle twitching.The clincial symptoms improved after oral administration of phenytoin sodium.Combined with previous literatures reports,there were ten males and seven females among 17 NMT patients,aged from 27 to 69 years old,with an average age of(43.7±12.4)years.All the 17 patients showed muscle twitching and muscle spasm,only two patients started with lower limb pain,and 12 patients were positive for immune-related antibodies in blood or cerebrospinal fluid.The prognosis was good after symptomatic treatment combined with immunomodulation.Conclusions Muscle twitching and muscle spasms are typical clinical features of neuromuscular rigidity,with rare onset of limb pain and potential for misdiagnosis.For patients with negative immune-related antibodies or unclear causes,long-term follow-up is still necessary after symptomatic treatment,and immunotherapy may benefit for a long time after excluding the risk of tumor or potential tumor.
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