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Review of the Diagnosis and Treatment of Periodic Paralysis

Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen‐Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset t...

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Autores principales: Statland, Jeffrey M., Fontaine, Bertrand, Hanna, Michael G., Johnson, Nicholas E., Kissel, John T., Sansone, Valeria A., Shieh, Perry B., Tawil, Rabi N., Trivedi, Jaya, Cannon, Stephen C., Griggs, Robert C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867231/
https://www.ncbi.nlm.nih.gov/pubmed/29125635
http://dx.doi.org/10.1002/mus.26009
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author Statland, Jeffrey M.
Fontaine, Bertrand
Hanna, Michael G.
Johnson, Nicholas E.
Kissel, John T.
Sansone, Valeria A.
Shieh, Perry B.
Tawil, Rabi N.
Trivedi, Jaya
Cannon, Stephen C.
Griggs, Robert C.
author_facet Statland, Jeffrey M.
Fontaine, Bertrand
Hanna, Michael G.
Johnson, Nicholas E.
Kissel, John T.
Sansone, Valeria A.
Shieh, Perry B.
Tawil, Rabi N.
Trivedi, Jaya
Cannon, Stephen C.
Griggs, Robert C.
author_sort Statland, Jeffrey M.
collection PubMed
description Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen‐Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522–530, 2018
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spelling pubmed-58672312018-04-24 Review of the Diagnosis and Treatment of Periodic Paralysis Statland, Jeffrey M. Fontaine, Bertrand Hanna, Michael G. Johnson, Nicholas E. Kissel, John T. Sansone, Valeria A. Shieh, Perry B. Tawil, Rabi N. Trivedi, Jaya Cannon, Stephen C. Griggs, Robert C. Muscle Nerve Invited Reviews Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen‐Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522–530, 2018 John Wiley and Sons Inc. 2017-11-29 2018-04 /pmc/articles/PMC5867231/ /pubmed/29125635 http://dx.doi.org/10.1002/mus.26009 Text en © 2017 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Invited Reviews
Statland, Jeffrey M.
Fontaine, Bertrand
Hanna, Michael G.
Johnson, Nicholas E.
Kissel, John T.
Sansone, Valeria A.
Shieh, Perry B.
Tawil, Rabi N.
Trivedi, Jaya
Cannon, Stephen C.
Griggs, Robert C.
Review of the Diagnosis and Treatment of Periodic Paralysis
title Review of the Diagnosis and Treatment of Periodic Paralysis
title_full Review of the Diagnosis and Treatment of Periodic Paralysis
title_fullStr Review of the Diagnosis and Treatment of Periodic Paralysis
title_full_unstemmed Review of the Diagnosis and Treatment of Periodic Paralysis
title_short Review of the Diagnosis and Treatment of Periodic Paralysis
title_sort review of the diagnosis and treatment of periodic paralysis
topic Invited Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867231/
https://www.ncbi.nlm.nih.gov/pubmed/29125635
http://dx.doi.org/10.1002/mus.26009
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