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Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).
- Source :
- Journal of Neurology, Neurosurgery & Psychiatry; Aug1998, p248-250, 3p
- Publication Year :
- 1998
-
Abstract
- A 35 year old woman with clinical features of hyperkalaemic periodic paralysis confirmed on provocative exercise testing was investigated. DNA sequence analysis of the gene for the alpha-subunit of the skeletal muscle voltage gated sodium channel (SCN4A) on chromosome 17q23 identified a point mutation at nucleotide position 2188. This results in a threonine to methionine substitution at amino acid position 704. The patient was intolerant of diuretic medication but showed a striking clinical and electrophysiological improvement with salbutamol therapy. Treatment with beta-adrenergic agents should be considered in patients with hyperkalaemic periodic paralysis who are intolerant of, or resistant to, diuretic medications. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00223050
- Database :
- Complementary Index
- Journal :
- Journal of Neurology, Neurosurgery & Psychiatry
- Publication Type :
- Academic Journal
- Accession number :
- 126271893