Myotonic Muscular Dystrophy Type 2 in CT, USA: A Single-Center Experience With 50 Patients.

Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder due to a (CCTG)n repeat expansion in intron 1 of the CNBP gene. In this article, we report the clinicopathologic findings in 50 patients seen at a single site over a 27 year period. DM2 was the fifth most common type of muscular dystrophy seen at our center with a 5-fold lower frequency as compared to DM1. Age of symptom onset ranged from 15 to 72 years, and the mean duration between symptom onset and diagnosis was 7.4 years. Weakness referable to the proximal lower extremities was the presenting symptom in 62% of patients. The degree of generalized weakness varied from severe in 30% to no weakness in 20% of patients. Clinical myotonia was noted in 18% and myotonic discharges on electromyography in 97% of patients. Pain symptoms were uncommon in our cohort. A significant correlation was noted between limb weakness and degree of muscle pathologic changes. There was no correlation between CCTG repeat size and other clinicopathologic findings. Six patients (12%) had cardiac abnormalities including one who developed progressive nonischemic dilated cardiomyopathy ultimately leading to cardiac transplantation. In 21 patients followed for 2 or more years, we noted a mean rate of decline in total Medical Research Council score of about 1% per year.