Slow-Channel Congenital Myasthenic Syndrome due to a CHRNA1 Variant Masquerading as Atypical Anorexia Nervosa: A Case...

Congenital myasthenic syndrome (CMS) is a group of inherited disorders characterized by skeletal muscle weakness resulting from dysfunction of the neuromuscular junction. Here, we report a case of a 42-year-old woman with slow-channel congenital myasthenic syndrome (SCCMS) whose phenotype included low body weight, which mimicked anorexia nervosa. The patient experienced progressive weight loss from 45kg (BMI 18.3) to 34kg (BMI 13.8) during her 20s despite not engaging in dieting, purging, or excessive exercising, nor did she express a desire to lose weight. The patient had asymmetrical fatigable weakness since the age of 10. Electrophysiology studies identified repetitive compound motor action potentials on nerve stimulation. Heterozygous NM_000079.4(CHRNA1):c.737C>T p.(Ser246Phe), a pathogenic variant for SCCMS, was detected by Sanger sequencing. This case illustrates the use of electrophysiology studies and genetic testing in differentiating organic causes of low body weight from anorexia nervosa.