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  • Title: Myotonia congenita--a cause of muscle weakness and stiffness.
    Author: Chrestian N, Puymirat J, Bouchard JP, Dupré N.
    Journal: Nat Clin Pract Neurol; 2006 Jul; 2(7):393-9; quiz following 399. PubMed ID: 16932590.
    Abstract:
    BACKGROUND: A 56-year-old woman was referred to a neurogenetic clinic with a history of stiffness and transient weakness. A previous needle electromyogram had confirmed the presence of myotonia, but a muscle biopsy had revealed no evidence of dystrophy. INVESTIGATIONS: Neurological examination, electrophysiological studies and genetic testing. DIAGNOSIS: Recessive myotonia congenita (Becker's disease). MANAGEMENT: Explanation of the nature of the disease and treatment with mexiletine 200 mg twice daily.
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