Paralysis Periodica Paramyotonica Caused by SCN4A Arg1448Cys Mutation

Paralysis Periodica Paramyotonica Caused by SCN4A Arg1448Cys Mutation

Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis. We report the case of a 23-year-old man with paralysis periodica paramyotonica....

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Bibliographic Details
Main Authors: Wei-Chih Hsu, Yung-Chuan Huang, Chung-Wei Wang, Chia-Hsiang Hsueh, Ling-Ping Lai, Jiann-Horng Yeh
Format: Article
Language:English
Published: Elsevier 2006-01-01
Series:Journal of the Formosan Medical Association
Subjects:
exercise test
hyperkalemic periodic paralysis
paralysis periodica paramyotonica
paramyotonia congenita
sodium channelopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S0929664609601911
Description
Summary:Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis. We report the case of a 23-year-old man with paralysis periodica paramyotonica. His father and a younger brother also exhibited a similar phenotype. A SCN4A Arg1448Cys mutation was detected in this family. The affected family members exhibited marked shifts in compound muscle action potential amplitudes on exercise test, and muscle weakness could be induced by potassium loading and cold exposure. This case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica. Other genetic or environmental factors may modulate the manifestation of SCN4A Arg1448Cys mutation.
ISSN:0929-6646

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