• J. Neurol. Neurosurg. Psychiatr. · Aug 1998

    Case Reports

    Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

    • M G Hanna, J Stewart, A H Schapira, N W Wood, J A Morgan-Hughes, and N M Murray.
    • Department of Clinical Neurology, Institute of Neurology, London, UK. mhanna@ion.ucl.ac.uk
    • J. Neurol. Neurosurg. Psychiatr. 1998 Aug 1; 65 (2): 248-50.

    AbstractA 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.

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