Paramyotonia

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.

Hospital Management Guidelines for Paramyotonia Congenita Patients

Patient's Name:

Birthdate: ________Height: _______Weight: _______

Address:

Primary Physician:

Emergency contact:  Your emergency contact should be someone who can speak for you when you cannot advocate for yourself.
Name:                                                                               Relationship:
home phone#                                         cell #                            FAX:

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:

Puzzled by the terms membrane potential, sodium channel, potassium channel and sodium-potassium pump?  

This cute cartoon explains what each is and shows how the potassium and sodium channels, and the sodium potassium pump maintain muscle membrane potential.  Although this uses nerves to illustrate how the principle works, the action is the same in muscle membrane. Click here to watch.

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.

For your convenience, arranged by topic, a "shelf" of journal articles on the periodic paralyses.

If you have a favorite link to suggest please pass it along.

This chapter from McGraw Hill's Myology, third edition; editors Andrew Engel and Clara Franzini-Armstrong,  give a comprehensive look at the nondystrophic myotonias and periodic paralyses, written by one of the world's top teams in the field.

Chapter from Myology, third edition: Nondystrophic Myotonias and Periodic Paralyses by Frank Lehmann-Horn, Reinhardt Rudel and Karin Jurkat-Rott.

Thank you Professor Dr. Lehmann-Horn, Dr. Jurkat-Rott and Dr. Rudel for your kind permission to include this valuable information on our website!

Do you suspect that you might have periodic paralysis? The periodic paralyses are a rare group of disorders and there are many conditions which cause an imbalance in serum potassium. So how does the doctor tell the difference between paralysis or weakness caused by an ion channelopathy and any of the other numerous disorders, conditions and reactions which might produce the same symptoms?

Hyperkalemic Periodic Paralysis and Paramyotonia Congenita can occur singly or in combination. 

While most attacks of Hyperkalemic Periodic Paralysis are brief and do not require emergency intervention, occasionally the serum potassium level will be high enough to cause cardiac distress, or muscle stiffness may interfere with respiration.  Attacks of weakness in Paramytonia Congenita are usually mild to moderate in severity, but myotonia of chest, diaphragm and throat muscles can be life-threatening under some circumstances. 

Talk to your physician