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Background Lambert-Eaton myasthenic syndrome (LEMS) is a type of paraneoplastic syndrome that may initially manifest itself with proximal weakness and gait abnormalities. Approximately up to 50% of LEMS patients have a primary autonomic dysfunction. Case presentation We present here a case of a 75-year-old male with symmetric proximal muscle weakness, dry mouth and constipation. The cutaneous response to scratch and upright tilt-table testing were positive. A repetitive nerve stimulation test showed that there was a decremental response of compound muscle action potential (CMAP) amplitude at 3 Hz while an incremental response at 20 Hz. The presence of antibodies against voltage-gated calcium channels (VGCC) confirmed the diagnosis. Because of the prominent symptom of autonomic disorder, the patient further underwent the test of skin sympathetic response (SSR). Lower amplitude and longer response duration were found in palms, while it evoked no response in soles. Conclusions In this case, we present the detailed results of SSR test on a patient suffering LEMS with autonomic disorder. Since autonomic dysfunction has a significant impact on clinical management and SSR test is an effective detection method, we recommend that SSR test be performed on patients with LEMS regularly.

A 40-year-old Chinese man had presented 21-year history of progressive weakness in his lower limbs, 10-year history of bilateral hands weakness with difficulty loosening after clenching fists, and 7-year history of decreased sexual function. Physical examination was notable for the obvious weakness in bilateral facial muscles; he had difficulty opening his mouth after teeth occlusion.

Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC) gene at chromosome 8q24.3. The major phenotypes of plectin‑associated disorder were epidermolysis bullosa with or without skeletal muscle involvement. The phenotype of pure muscular dystrophy was rarely reported. Here we report a Chinese patient carrying a novel compound heterozygous PLEC mutations presenting with pure muscular dystrophy.

Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC) gene at chromosome 8q24.3. The major phenotypes of plectinassociated disorder were epidermolysis bullosa with or without skeletal muscle involvement. The phenotype of pure muscular dystrophy was rarely reported. Here we report a Chinese patient carrying a novel compound heterozygous PLEC mutations presenting with pure muscular dystrophy.