Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report

Abstract

A workshop entitled Illuminating CNS and Cognitive Issues in Myotonic Dystrophy, sponsored by the Marigold Foundation, was held in Toronto in May, 2012. Participants included 24 clinicians, scientists and patient representatives from six countries and from diverse fields of myotonic dystrophy type 1 (DM1) research. The purpose was to promote a more accurate understanding of DM1 pathology [1], to highlight specific areas and focus efforts on understanding CNS dysfunction as a critical area of investigation for DM1 research, with the overarching aim of reducing the heavy burden that CNS dysfunction places on DM1 patients and families. DM CNS dysfunction and cognitive impairment is a challenging area of study due to the disease’s complex pathophysiology and the diversity and variability of the clinical presentation, coupled with our limited understanding of brain function. Cognitive function in myotonic dystrophy type 2 (DM2) has similarities, though reportedly less acute than in DM1. A discussion-based forum explored numerous topics summarized below, and yielded a consensus list of action items and research areas needing development. Coordinated CNS research in DM is needed and this report serves as a starting point on this path.