Christina Mousele1, Emma Matthews1, Robert D S Pitceathly1, Michael G Hanna1, Susan MacDonald1, Konstantinos Savvatis1, Aisling Carr1, Christopher Turner1. 1. UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery (CM); Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery (EM, RDSP, MGH, AC, CT); The National Hospital for Neurology and Neurosurgery (SM), Atkinson-Morley Neuromuscular Centre (EM); and Inherited Cardiovascular Diseases Unit, Barts Health Centre, Barts Healthcare NHS Trust (KS), London, United Kingdom.
Abstract
BACKGROUND AND OBJECTIVE: Myotonic dystrophy types 1 and 2 are progressive multisystem genetic disorders whose core clinical feature is myotonia. Mexiletine, an antagonist of voltage-gated sodium channels, is a recommended antimyotonic agent in the nondystrophic myotonias, but its use in myotonic dystrophy is limited because of lack of data regarding its long-term efficacy and safety profile. METHODS: To address this issue, this study retrospectively evaluated patients with myotonic dystrophy receiving mexiletine over a mean time period of 32.9 months (range 0.1-216 months). RESULTS: This study demonstrated that 96% of patients reported some improvement in myotonia symptoms with mexiletine treatment. No clinically relevant cardiac adverse events were associated with the long-term use of mexiletine. CONCLUSIONS: These findings support that mexiletine is both safe and effective when used long-term in myotonic dystrophy. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that mexiletine is a well-tolerated and effective treatment for myotonic dystrophy types 1 and 2.
BACKGROUND AND OBJECTIVE: Myotonic dystrophy types 1 and 2 are progressive multisystem genetic disorders whose core clinical feature is myotonia. Mexiletine, an antagonist of voltage-gated sodium channels, is a recommended antimyotonic agent in the nondystrophic myotonias, but its use in myotonic dystrophy is limited because of lack of data regarding its long-term efficacy and safety profile. METHODS: To address this issue, this study retrospectively evaluated patients with myotonic dystrophy receiving mexiletine over a mean time period of 32.9 months (range 0.1-216 months). RESULTS: This study demonstrated that 96% of patients reported some improvement in myotonia symptoms with mexiletine treatment. No clinically relevant cardiac adverse events were associated with the long-term use of mexiletine. CONCLUSIONS: These findings support that mexiletine is both safe and effective when used long-term in myotonic dystrophy. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that mexiletine is a well-tolerated and effective treatment for myotonic dystrophy types 1 and 2.
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