title: Myotonic disorders: A review article.
abstract: The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (MC), to severe disability with muscle weakness, cardiac conduction defects, and other systemic features as in myotonic dystrophy type I (DM1). In this review, we describe the clinical features and pathophysiology of the different myotonic disorders, their laboratory and electrophysiologic findings and briefly review the currently available treatments.
authors.affiliation: Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, USA.
authors.forename: Chris
authors.initials: C
authors.lastname: Hahn
authors.affiliation: Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, USA.
authors.forename: Mohammad Kian
authors.initials: MK
authors.lastname: Salajegheh
keywords: Hyperkalemic Periodic Paralysis; Myotonia; Myotonia Congenita; Myotonic Dystrophy; Paralysis Periodica Paramyotonia