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Author Magot, Armelle ♦ David, Albert ♦ Sternberg, Damien ♦ Yann, Péréon
Source PubMed Central
Content type Text
Publisher BMJ Publishing Group
File Format PDF
Date Created 2014-06-17
Copyright Year ©2014
Language English
Difficulty Level Medium
Subject Domain (in DDC) Technology ♦ Medicine & health
Abstract Mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. Focal paresis has sometimes already been described. We report a case with atypical clinical manifestation comprising paramyotonia and cold-induced persistent and focal paralysis. A 27-year-old woman presented with paramyotonia congenita since her childhood. She experienced during her childhood one brief episode of generalised weakness. At the age of 27, she experienced a focal paresis lasting for several months. The known mutation p.Val1293Ile was found in the muscle sodium channel gene (SCN4A). Channel inactivation is involved in most Na+ channelopathies. Fast inactivation is known to be responsible for the myotonia phenotype. We hypothesise that the V1293I mutation may also alter the slow inactivation in specific conditions, for example, prolonged cold exposure or prolonged and intensive exercise. This observation broadens the spectrum of clinical manifestations of this sodium channel mutation.
ISSN 1757790X
Age Range above 22 year
Educational Use Research
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article
Publisher Date 2014-06-17
Rights Holder BMJ Publishing Group
e-ISSN 1757790X
Journal BMJ Case Reports
Volume Number 2014
Starting Page 2014204430


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Source: PubMed Central