Rinsho Shinkeigaku
Online ISSN : 1882-0654
Print ISSN : 0009-918X
ISSN-L : 0009-918X
Case Reports
Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation
Kensuke ShigaIkuko MizutaYu-ichi NotoMasanori NakagawaRyogen SasakiMasanaga Yamawaki
Author information
JOURNALS FREE ACCESS

2014 Volume 54 Issue 5 Pages 434-439

Details
Abstract

A 73-year-old man with recurrent periodic paralytic episodes lasting for two weeks each admitted to our hospital because of the leg weakness and the elevated value of serum creatine kinase. On admission, weakness in the proximal legs and mild eye lid myotonia were noted. Needle electromyography revealed abundant myotonic discharges. The prolonged exercise test showed a continuous reduction of compound muscle action potentials in the abductor digiti minimi muscle. Direct sequencing of SCN4A in the proband showed a G-to-A alteration at position 4774 that results in a change of 1592nd methionine to valine (M1592V). Cosegregation regarding the M1592V mutation and paralytic phenotype in this family was confirmed. Two cardinal features in this family were longer paralytic episodes compared to classical hyperkalemic/normokalemic periodic paralysis and the normal potassium value during the paralytic episodes. This study together with antecedent reports indicates that M1592V mutation shares a much greater clinical diversity ranging from congenital paramyotonia to periodic paralysis with a longer duration.

Information related to the author
© 2014 Societas Neurologica Japonica
Previous article Next article
feedback
Top