Myotonia congenita--a cause of muscle weakness and stiffness

Nat Clin Pract Neurol. 2006 Jul;2(7):393-9; quiz following 399. doi: 10.1038/ncpneuro0239.

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.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Electromyography
  • Female
  • Genes, Recessive
  • Humans
  • Mexiletine / therapeutic use
  • Middle Aged
  • Muscle Weakness / etiology*
  • Muscle Weakness / physiopathology*
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology*
  • Myotonia Congenita / complications*
  • Myotonia Congenita / genetics
  • Myotonia Congenita / physiopathology*
  • Neurologic Examination

Substances

  • Mexiletine