Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A)
- aDepartment of Clinical Neurology, bDepartment of Clinical Neurophysiology, Institute of Neurology, Queen Square, London, UK
- Dr MG Hanna, Neurogenetics section, Department of Clinical Neurology, Institute of Neurology, Queen Square, London WCIN 3BG, UK. Fax 0044 171 278 5616; email mhanna{at}ion.ucl.ac.uk
- Received 17 September 1997
- Revised 24 November 1997
- Accepted 25 November 1997
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 α-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 β-adrenergic agents should be considered in patients with hyperkalaemic periodic paralysis who are intolerant of, or resistant to, diuretic medications.
