TY - CHAP M1 - Book, Section TI - Myotonia Congenita A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a rare genetic disorder characterized by myotonia, muscle stiffness, and abnormal muscle hypertrophy that gives the impression of Herculean or “bodybuilder-like” appearance. There are two main forms of myotonia congenita that have been described: Thomsen disease and Becker disease. In Thomsen disease, symptoms and findings are usually apparent from infancy to approximately 2 to 3 years of age. In many cases, muscles of the eyelids, hands, and legs are most affected. In Becker disease, symptoms most commonly become apparent between the ages of 4 and 12 years. Affected individuals develop progressive myotonia; however, muscle rigidity and hypertrophy tend to be more severe. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164079842 ER -