Myotonic Dystrophy

Johanna I. Hamel, MD Muscle and Neuromuscular Junction Disorders p. 1715-1734 December 2022, Vol.28, No.6 doi: 10.1212/CON.0000000000001184
Article as PDF
-- Select an option --

PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs. The multisystem involvement and disease variability of myotonic dystrophy have presented challenges for clinical care and research. This article focuses on the diagnosis and management of the disease. In addition, recent advances in characterizing the diverse clinical manifestations and variability of the disease are discussed.

RECENT FINDINGS Studies of the multisystem involvement of myotonic dystrophy, including the most lethal cardiac and respiratory manifestations and their molecular underpinnings, expand our understanding of the myotonic dystrophy phenotype. Advances have been made in understanding the molecular mechanisms of both types of myotonic dystrophy, providing opportunities for developing targeted therapeutics, some of which have entered clinical trials in DM1.

SUMMARY Continued efforts focus on advancing our molecular and clinical understanding of DM1 and DM2. Accurately measuring and monitoring the diverse and variable clinical manifestations of myotonic dystrophy in clinic and in research is important to provide adequate care, prevent complications, and find treatments that improve symptoms and life quality.

Address correspondence to Dr Johanna Hamel, 601 Elmwood Ave, Box 645, Rochester, NY 14641, [email protected].

RELATIONSHIP DISCLOSURE: Dr Hamel has has received personal compensation in the range of $500 to $4999 for serving as a consultant for Vertex Pharmaceuticals.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Hamel discusses the unlabeled/investigational use of mexiletine for the treatment of myotonia and modafinil for the treatment of daytime sleepiness in myotonic dystrophy.

© 2022 American Academy of Neurology.