Welcome to Periodic Paralysis International!

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Our website reflects our mission to make medically accurate, up-to-date information about the periodic paralyses accessible to patients, caretakers and physicians.

Our goal is to help create successful partnerships between physicians, researchers and periodic paralysis patients in order to speed diagnosis and improve therapy and management strategies, thereby improving quality of life and clinical outcomes for patients.


Some physicians continue to persist in the belief that paramyotonia congenita does not cause paralytic attacks. A recent report refutes this belief, which is consistent with reports from numerous patients diagnosed with PMC, and with journal reports over the years.

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.

A 27-year-old woman presented with paramyotonia congenita since her childhood. She experienced during her childhood one brief episode of generalised weakness. At the age of 27, she experienced a focal paresis lasting for several months. The known mutation p.Val1293Ile was found in the muscle sodium channel gene (SCN4A). Channel inactivation is involved in most Na(+) channelopathies. Fast inactivation is known to be responsible for the myotonia phenotype. We hypothesise that the V1293I mutation may also alter the slow inactivation in specific conditions, for example, prolonged cold exposure or prolonged and intensive exercise. This observation broadens the spectrum of clinical manifestations of this sodium channel mutation.

2014 BMJ Publishing Group Ltd. PMID: 24939454

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Information in Danish: Nyhed- Information på dansk 

Information in Spanish: Ahora la información en Español: Parálisis Periódicas 

Tambien Directrices de hospitalización para la parálisis periódica hipopotasémica en Español:

Information in Dutch:  Nu hebben we informatie in het Nederlands! Overzicht van de periodieke verlamt in het Nederlands

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Why does it take so long to get a diagnosis?

by Diane O'Leary, PhD

In a journal article published in October 2012 the average diagnostic delay reported by the 68 patients surveyed was 26 years! From the NORD Blog we bring you an eye-opening post about the incidence of rare diseases. It's estimated that the average family physician sees two-three patients a day with an often unrecognized rare disease!  So we ask the question - WHY, in an era of instantly available information, does it take so long to get a diagnosis? Read more.

Falls are Dangerous!

Falling is a big problem for many of us. This excellent video from the Myositis Association shows how to prevent falls, how to get up after you've fallen and how to direct someone else to help you when you've fallen.

PPA 2013 Conference videos and presentations are now on-line! Watch them all!

We've wondered for some time if some cases of hypokalemic periodic paralysis were not mitochondrial in origin? Now for the first time researchers have identified a patient with a mitochondrial origin for his hypokalemic paralysis.

Severe Hypokalemic Paralysis as a Manifestation of a Mitochondrial Disorder. Josef Finsterer and Stefan Lässer; Tohoku J. Exp. Med., 2013, 231, 9-12

Mitochondrial disorder (MtD) is usually a multisystem disease due to impaired mitochondrial energy production. Severe hypokalemia resulting in muscle weakness and rhabdomyolysis has not been reported as a phenotypic feature of Mitochondrial Disease. …Mitochondrial disorder (MtD) is most frequently due to impaired energy production by the respiratory chain or the oxidative phosphorylation. The biochemical defect may result from mutations in the mitochondrial DNA or the nuclear DNA. MtD may manifest as a syndromic or non-syndromic disorder, or as a mono-organ or multi-organ disease (Finsterer 2012).  Read article

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A new study "Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals", authored by Drs. Levitt and Charles of the Periodic Paralysis Association, Dr. Zheng of New-Haven Yale Hospital, New Haven CT, and Drs. Lehmann-Horn and Jurkatt-Rott of Ulm University reveals valuable information about Hyperkalemic PP and PMC. Read it in full; courtesy of the Periodic Paralysis Association:

NORD has released a state-by-state map and list of insurance resources. Invaluable information!

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Management Information:

FAQ's for Starting Acetazolamide (Diamox)

New: A Quick Overview of Hypokalemic Periodic Paralysis

Potassium (K+) Supplements Commonly Prescribed for HypoKPP

Featured Reading:

The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients, was published in the October 2012 issue of Acta Myologica. Co-authors were Periodic Paralysis International Director Deborah Cavel-Greant and Drs. Frank Lehmann-Horn and Karin Jurkatt-Rott. This survey identified aspects of PMW which had never been documented before. Thanks to all the patients who participated in the survey.

A new study reveals that the periodic paralyses adversely affect the quality of life as significantly as other chronic disabling disorders.