Doctor

Leaky channels make weak muscles: Mutations in the skeletal muscle voltage-gated calcium channel (CaV 1.1) have been associated with hypokalemic periodic paralysis, but how these mutations cause the symptoms of the disorder has always been unclear. In this article the authors describe how they used mice with the CaV 1.1 mutation  to investigate how the mutation causes the features of HypoKPP.

Neurology. 2013 Feb 20. [Epub ahead of print]
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis.
Wu F, Mi W, Cannon SC.

Source: From the Department of Neurology and Neurotherapeutics (F.W., W.M., S.C.C.) and Program in Neuroscience (S.C.C.), UT Southwestern Medical Center, Dallas, TX.

Abstract

OBJECTIVE:

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.

Authors Kil TH, et al.

Journal: Eur J Paediatr Neurol. 2010 May;14(3):278-81. doi: 10.1016/j.ejpn.2009.08.004. Epub 2009 Oct 12.

Affiliation: Department of Pediatrics, College of Medicine, Konyang University, 685 Gasoowon-dong, Su-goo, Daejun, Choongnam 302-718, South Korea.

Because this is a frequently asked question from patients we post here a reply:

Question:

My doctor wants to prescribe a medication called acetazolamide. Is that okay for someone with Hypokalemic periodic paralysis. When I look on the web it says this medication causes you to excrete potassium. How can that be good for me?

Answer:

This article is dedicated to the memory of Aleksandr Batutenko, a person who was not afraid to declare publicly his rare disease. It was written by Aleksandr Batutenko's wife Nadezhda, and it is published here with her permission.

Aleksandr was a brave young man who lost his life trying to clarify his diagnosis for the benefit of other periodic paralysis patients in the Ukraine. 

PLoS One. 2012; 7(7): e40235.
Published online 2012 July 10.

Splicing of the rSlo Gene Affects the Molecular Composition and Drug Response of Ca2+-Activated K+ Channels in Skeletal Muscle

Maria Maddalena Dinardo,#1 Giulia Camerino,#1 Antonietta Mele,1 Ramon Latorre,2 Diana Conte Camerino,1 and Domenico Tricarico1,*

Abstract


Measuring quality of life impairment in skeletal muscle channelopathies.


Eur J Neurol. 2012 May 19. doi: 10.1111/j.1468-1331.2012.03751.x. [Epub ahead of print]

Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; INQoL Group.
Source
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Milan, Italy.


Abstract


BACKGROUND AND PURPOSE:

Penn State researcher counts the ways poetess Browning may have had rare disease
By Tom Avril; Philadephia Inquirer Staff Writer

Scholars have proposed a number of explanations for the muscle weakness and other ailments that plagued the Victorian poet Elizabeth Barrett Browning. But none of these after-the-fact diagnoses - from anxiety to tuberculosis - seemed to fit the symptoms perfectly. Now Pennsylvania State University researcher Anne Buchanan thinks she has cracked the case, as the result of an intensely personal connection.

1) Patient has "attacks" of weakness and/or floppy paralysis.

2) First attacks occur by the age of 16 in 65% of patients.

Anticipating the Baby

Expectant mothers and their doctors can take the secure thought that hundreds of women with periodic paralysis have been members of our Listserv since 1995, and an overwhelming majority of them have been mothers. To date not a single one has been unable to care for her child due to her periodic paralysis.