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RGUHS Nat. J. Pub. Heal. Sci Vol: 14  Issue: 2 eISSN:  pISSN

Review Article

Hyperkalemic Periodic Paralysis

Neki NS*1 , Maninder Singh2 , Divyang M. Shah3

* Corresponding Author:

Dr. N.S. Neki, Professor of Medicine, Govt. Medical College & Guru Nanak Dev Hospital, Amritsar,143 001 E-mail:drneki123@gmail.com

1  Professor, 2Postgraduate Medicine ; Dept. of Medicine, Govt. Medical College/Guru Nanak Dev Hospital, Amritsar, Punjab

Year: 2013, Volume: 3, Issue: 4, Page no. 251-254,
Views: 641, Downloads: 4
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CC BY NC 4.0 ICON
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0.
Abstract

Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. It is most commonly associated with horses, but also occurs in humans, where it is called Gamstorp episodic adynamy. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium or cold, can lead to uncontrolled shaking followed by paralysis. Onset in humans usually occurs in early childhood. The mutation causes single amino acid changes in parts of the channel which are important for inactivation. In the presence of high potassium levels, including those induced by diet, sodium channels fail to inactivate properly.

<p>Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. It is most commonly associated with horses, but also occurs in humans, where it is called Gamstorp episodic adynamy. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium or cold, can lead to uncontrolled shaking followed by paralysis. Onset in humans usually occurs in early childhood. The mutation causes single amino acid changes in parts of the channel which are important for inactivation. In the presence of high potassium levels, including those induced by diet, sodium channels fail to inactivate properly.</p>
Keywords
Hyperkalemic periodic paralysis(HYPP); autosomal dominant.
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