Title of article
Myotonic disorders: A review article
Author/Authors
Hahn، Chris نويسنده Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, Boston, USA Hahn, Chris , Salajegheh، Mohammad Kian نويسنده Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, Boston, USA Salajegheh, Mohammad Kian
Issue Information
فصلنامه با شماره پیاپی 0 سال 2016
Pages
8
From page
46
To page
53
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.
Journal title
Iranian Journal of Neurology
Serial Year
2016
Journal title
Iranian Journal of Neurology
Record number
2384948
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