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Nat Clin Pract Neurol. 2006 Jul;2(7):393-9; quiz following 399.

Myotonia congenita--a cause of muscle weakness and stiffness.

Author information

1
University of Laval, QC, Canada.

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.

PMID:
16932590
DOI:
10.1038/ncpneuro0239
[Indexed for MEDLINE]

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