The diagnosis and treatment of myotonic disorders
Version of Record online: 27 MAR 2013
Copyright © 2012 Wiley Periodicals, Inc.
Muscle & Nerve
Volume 47, Issue 5, pages 632–648, May 2013
How to Cite
Heatwole, C. R., Statland, J. M. and Logigian, E. L. (2013), The diagnosis and treatment of myotonic disorders. Muscle Nerve, 47: 632–648. doi: 10.1002/mus.23683
- Issue online: 22 APR 2013
- Version of Record online: 27 MAR 2013
- Accepted manuscript online: 24 SEP 2012 12:18PM EST
- Manuscript Accepted: 14 SEP 2012
- National Institute of Arthritis and Musculoskeletal and Skin Disorders. Grant Number: 1K23-AR055947 to C.R.H.
- myotonic dystrophy;
- nondystrophic myotonia;
Myotonia is a defining clinical symptom and sign common to a relatively small group of muscle diseases, including the myotonic dystrophies and the nondystrophic myotonic disorders. Myotonia can be observed on clinical examination, as can its electrical correlate, myotonic discharges, on electrodiagnostic testing. Research interest in the myotonic disorders continues to expand rapidly, which justifies a review of the scientific bases, clinical manifestations, and numerous therapeutic approaches associated with these disorders. We review the pathomechanisms of myotonia, the clinical features of the dystrophic and nondystrophic myotonic disorders, and the diagnostic approach and treatment options for patients with symptomatic myotonia. Muscle Nerve 47: 632–648, 2013