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Myotonic dystrophy type 1 (DM1) is associated with both skeletal and cardiac m uscle involvement. The aim of the present study was to determine whether familia l clustering is observed in the severity of muscle involvement in DM1. We evalua ted 51 sibling groups constituting 112 patients with geneticallyverified DM1. Th e siblings were similar to each other in age, cytosine-thymine-guanine (CTG) r epeat length, age at disease onset, muscular impairment rating score, and electr ocardiographic markers of cardiac conduction disease. After adjusting for the si milarities between siblings in age and CTG repeat length, the siblings remained similar to each other in measures of both skeletal and cardiac muscle involvemen t. These results suggest that factors other than CTG repeat length play a role i n the severity and progression of the degenerative skeletal and cardiac muscle d isease in DM1.
The aim of the present study was to determine whether familia l clustering is observed in the severity of muscle involvement in DM1. We evalua ted 51 sibling groups composition 112 patients with geneticallyverified DM1. Th e siblings were similar to each other in age, cytosine-thymine-guanine (CTG) r epeat length, age at disease onset, muscular impairment rating score, and electr ocardiographic markers of cardiac conduction disease. After adjusting for the si milarities between siblings in age and CTG repeat length, the siblings were similar to each other in measures of both skeletal and cardiac muscle involvemen t. These results suggest the factors other than than CTG repeat length play a role in the severity and progression of the degenerative skeletal and cardiac muscle d isease in DM1.