Myotonic Dystrophy Type 1 Management and Therapeutics.
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders. At present, there is no curative or disease-modifying treatment, although clinical treatment trials have become more promising. Management focuses on genetic counseling, preserving function and independence, preventing cardiopulmonary complications, and symptomatic treatment (e.g., pain, myotonia, hypersomnolence, etc.). Currently, there is an increasing international consensus on monitoring and treatment options for these patients which necessitates a multidisciplinary team to provide comprehensive, coordinated clinical care.
Department of Neurology, Neurogenetic and Neuromuscular Division, University of Iowa Hospital and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Cheryl A
CA
Smith
Department of Neurology, Neurogenetic and Neuromuscular Division, University of Iowa Hospital and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA. laurie-gutmann@uiowa.edu.
Laurie
L
Gutmann
Management; Myotonic dystrophy; Therapy; Trials