Current Advances in Myotonic Dystrophy

Dear Colleagues,

Myotonic dystrophy, the leading cause of adult-onset muscular dystrophy, is one of the most complex rare human diseases. This devastating multi-system disease is often characterized by its predominant myotonia (inability to relax muscles) and myopathy (muscle weakness), but affected individuals are affected by a host of other symptoms, including cataracts, gastrointestinal dysfunction, cardiac conduction defects, daytime sleepiness, and cognitive dysfunction. The discovery of the underlying disease-causing CTG repeat expansion (DM1) in 1996 and CCTG repeat expansion (DM2) in 2001 has provided significant insights into the disease pathogenesis, which includes RNA toxicity and a host of other downstream pathogenic processes. Toxic RNA resulting from the expression of the repeat expansion leads to the nuclear sequestration of the muscleblind-like (MBNL) family of proteins and a failure in their alternative splicing function, which produces alterations in the alternative splicing patterns or “spliceopathy”. Despite a complex disease process that includes significant heterogeneity, there has been significant recent progress towards disease-targeting therapies. With these therapies now within reach, it is an appropriate time to examine advances in the myotonic dystrophy research field.

This Special Issue will comprise a mixture of reviews and original research articles focused on advances in the understanding of myotonic dystrophy and step towards a viable therapeutic. Of special interest are hypothesis-driven reviews that seek to advance the understanding of the complex pathogenesis of DM through the examination of supportive genetics and genomics evidence, including but not limited to, meta-analyse, model systems, and association with clinical findings. Reviews that apply advances and knowledge from other repeat expansion diseases directly to DM are also welcome. Articles can focus on any aspect of myotonic dystrophy that aids in understanding disease complexity, including clinical observations as well as basic, applied, and translational research. Articles that critically review the current landscape of therapeutic development are also welcome, along with original research focused on addressing gaps in the current therapeutic landscape. Articles without relevance to myotonic dystrophy or those that do not focus on the disease will not be accepted for this special issue.

Dr. J. Andrew Berglund
Dr. John D. Cleary
Guest Editors

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• myotonic dystrophy
• repeat expansion
• RNA toxicity
• spliceopathy
• therapeutic development
• disease heterogeneity
• model systems
• disease pathogenesis
• clinical advances