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Objective To summarize the clinical features and electrophysiological characteristics of stiff-person syndrome (SPS). Methods and Results Clinical data of 11 SPS patients [8 were classic and 3 were stiff-person plus syndrome (SPPS)], who were diagnosed and treated from August 2009 to November 2018, were retrospectively collected. They mainly presented paroxysmal muscle stiffness and pain spasm under stimulation or emotional excitement. The first affected sites were at trunk (4 cases) or limb (7 cases) muscles, and by the time of diagnosis, were mainly at truck muscles (8 cases). Anti - glutamic acid decarboxylase (GAD) antibody testing was positive in 6 cases. Electromyography (EMG) of all the patients showed continuous motor unit activity (CMUA) in the affected muscles at rest state. After treated by benzodiazepines, motor unit potential (MUP) obviously decreased or even disappeared in 6 patients. Conclusions Stiff-person syndrome is a rare autoimmune disease with multiple initial sites, atypical initial symptoms and difficulty in early diagnosis. It should be distinguished from many diseases such as familiar hyperekplexia, tetanus, myotonia congenita and multiple sclerosis (MS). [ABSTRACT FROM AUTHOR]

Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17 - year - old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated exercise. The creatine kinase (CK) level was normal. Genetic testing showed there were two missense mutations c.1205C > T (p.Ala402Val) and c.896T > C (p.Val299Ala) located in exon 11 and 8 of CLCN1 gene respectively in the proband. The missense mutation c.1205C > T (p.Ala402Val) in exon 11 was found out in his mother and c.896T > C (p. Val299Ala) located in exon 8 was found out in his father. The latter, exon 8 c.896T > C of CLCN1 gene has not been reported. The proband was clearly diagnosed as Becker myotonia congenita, and his family was diagnosed as Becker myotonia congenita pedigree. After 5 years' treatment with lamotrigine, the symptom of myotonia was significantly improved and no adverse reactions was observed. Conclusions The missense mutation in exon 8 c.896T > C in this patient further expanded the CLCN1 gene mutation spectrum. Lamotrigine is effective in treating Becker myotonia congenita, providing a new idea for the treatment of myotonia congenita. [ABSTRACT FROM AUTHOR]