Basic Reading

Hypokalemic Periodic Paralysis

Hypokalemic periodic paralysis (HypoKPP) is one of the primary forms of periodic paralysis, caused by one or more mutations in the calcium, sodium or potassium ion channels in muscle membrane.

Features of Hypokalemic Periodic Paralysis

There are two forms of HypoKPP, a paralytic form and a myopathic form.

Andersen-Tawil Syndrome

This comprehensive article is from the National Organization for Rare Disorders (NORD)

NORD gratefully acknowledges Rabi Tawil, MD, University of Rochester Medical Center, Professor of Neurology for assistance in the preparation of this report.

Synonyms of Andersen-Tawil Syndrome

Andersen Syndrome
ATS
Long QT Syndrome 7
LQTS7
General Discussion

Summary

Anaesthesia and peri-operative care in the primary Periodic Paralysis Disorders

Adverse reactions to anaesthesia, including life-threatening events, are a serious concern for patients with Periodic Paralysis Disorders. Many of our patients report serious events associated with anesthesia and side effects which may linger for days to months.

There is rarely time for a surgical team to comb through journals and texts for the specialized knowledge needed to care for the patient with periodic paralysis.

The Membrane Potential, Voltage-Gated Ion Channels and Action Potentials

Action Potentials 1 - Resting Membrane Potential:

This is the first tutorial in a series on Action Potentials. This video looks at how the Na+/K+ ATPase Ion Transporter sets up a voltage across a membrane.

Action Potentials 2 - Voltage-Gated Ion Channels:

This second tutorial looks at how the Voltage Gated Na+ & K+ Ion channels change the voltage across the membrane of a cell and thus produce an action potential.

Focal and abnormally persistent paralysis associated with congenital paramyotonia

Focal and abnormally persistent paralysis associated with congenital paramyotonia.

Magot A1, David A2, Sternberg D3, Péréon Y1.

British Medical Journal Case Report 2014 Jun 17;2014.

Abstract

Mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. Focal paresis has sometimes already been described. We report a case with atypical clinical manifestation comprising paramyotonia and cold-induced persistent and focal paralysis.

Practical Aspects in the management of Hypokalemic Periodic Paralysis

This comprehensive article, written by a practicing physician who has hypokalemic periodic paralysis enables the GP or Neurologist who has never encountered a patient with the disease before to manage them with confidence.

Resources for Parents with Children with Special Educational Needs

Children with Periodic Paralysis may require extra help or specialized services to be able to attend school. Laura Kaloi, Public Policy Director at the National Center for Learning Disabilities, explains the ins and outs of Individualized Education Programs (IEPs) in this video. For more information about IEPs, see "What Is an IEP?".

Measuring quality of life impairment in periodic paralyses


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
   Link to pdf copy of entire article 

BACKGROUND AND PURPOSE:

The Action Potential - A Movie!

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.

A Quick Overview of Hypokalemic Periodic Paralysis

 

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

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

Pages

Subscribe to RSS - Basic Reading