Serene Forest

Monday, February 23, 2015

Periodic Paralysis and the EMG (CMAP)


Hello All,

A member of our PPN Support, Education and Advocacy Group asked for information about EMG’s, also known as CMAP’s. These tests are often used to diagnose or rule out Periodic Paralysis. Unfrotunately, the results of these may or may not diagnose Periodic Paralysis depending on several factors: if it is done correctly, the type of Periodic Paralysis an individual has, whether they have had an episode recently, whether they are presently in an paralytic episode and more.

The procedure can be painful and uncomfortable for some individuals, but not unbearable. If it is done properly, it can diagnose only a few forms of Periodic Paralysis. A NEGATIVE TEST RESULT WILL NOT MEAN THAT YOU DO NOT HAVE PERIODIC PARALYSIS. Research indictes that some individuals who have been genetically diagnosed have negative results on the test or varying results on sequential testing.

A decrease of more than 40% (of the amplitude) is considered enough to diagnose PP. Any more than that is complicating to explain. If someone has not had an episode of paralysis in the three weeks before the test, it would be expected to be normal. The forms which may be detected using EMG (CMAP) testing are calcium and sodium channelopathies and thyrotoxic periodic paralysis.

So, for a diagnosis to be made from the results of an EMG/CMAP many things need to be considered. The following is more specific information and links compiled, which explain all of the difficult to understand specifics. Some forms of PP can easily be detected and others cannot and that depends on many factors and that also includes if the testing is done correctly. So, a negative result does not mean that some one does not have PP, just that it was not able to be detected.

For Hypokalemic Periodic Paralysis:

"Diagnosis can be achieved through a specialized form of electromyographic (EMG) testing called the long exercise test. This test measures the amplitude of a nerve response (called the Compound Muscle Action Potential or CMAP) for 40 to 50 minutes following a few minutes of exercise. In affected patients, there is a progressive fall in the amplitude of the potential.....Standard EMG testing cannot diagnose a patient unless they are in a full blown attack at the time of testing."
"Electromyogram (EMG). Muscle electrophysiologic testing must be performed during an interictal period. Protocols for implementation [Fournier et al 2004] and interpretation [Tan et al 2011] have been published. EMG testing includes: 

Assessment for myotonic discharges. 
Repeated short exercise tests. 
A long exercise test (the principal discriminating test for primary periodic paralysis).

The diagnosis of primary hypokalemic periodic paralysis relies on:
The absence of myotonic discharges Note: One family with combined heat-induced myotonia and cold-induced hypokalemic periodic paralysis has been described [Sugiura et al 2000].
The presence of a progressive and marked decrease in the amplitude of compound motor action potentials (CMAP) during a long exercise test [McManis et al 1986].

During an attack, EMG findings are not specific; EMG demonstrates a reduced number of motor units and possibly myopathic abnormalities.

Between attacks, EMG may exhibit myopathic abnormalities in individuals with fixed myopathy.

Specific exercise tests can assist with the diagnosis of periodic paralyses and nondystrophic myotonias [Fournier et al 2004]:
Short exercise test (SET). SET consists of recording evoked compound muscle action potential (CMAP) every ten seconds over one minute after a short effort (5-12 seconds) [Streib 1987].
Long exercise test (LET). LET consists of recording evoked CMAP over 30-45 minutes, every one to two minutes and then every five minutes, after a long effort (2-5 minutes, with brief 3- to 4-second rest periods every 15-45 seconds) [McManis et al 1986].
Five patterns (I-V) of abnormal responses to SET and/or LET in periodic paralyses and nondystrophic myotonias have been described [Fournier et al 2004]. Genetically defined periodic paralyses specifically result in: Pattern IV (no or rare myotonic discharges, increase of CMAP on  SET, immediate increase and late marked decrease in LET), more commonly seen in the hyperkalemic type OR Pattern V (no myotonic discharges, normal response to SET, no immediate increase but late marked decrease in LET), more commonly seen in the hypokalemic type.

A false negative normal pattern may be noted in some individuals who have a disease-causing mutation, especially in asymptomatic individuals or those who have not recently had a paralytic attack [Tengan et al 2004].


A decrease of at least 30% in CMAP amplitude and surface on LET is diagnostic for HOKPP. A decrease of less than 30% and greater than 20% is less specific and may indicate a different diagnosis. This decrease corresponds to pattern IV (with initial increment) and pattern V."

"During an episode of weakness, the compound motor action potential (CMAP) may be reduced, and rarely, absent on motor nerve conduction studies; insertional activity is reduced, fibrillation potentials and positive sharp waves are seen and there is an increased proportion of polyphasic motor unit potentials on needle examination (Engel et al., 1965). Surface and invasive EMG studies document reduced muscle fibre conduction velocity (Links and van der Hoeven, 2000). Interictal clinical electrophysiological testing (Table 2) is helpful in the diagnosis of PP. Changes in CMAP after exercise may correlate with exercise-induced symptoms (McManis et al., 1986) and channel mutation (Fournier et al., 2004). Myotonia on EMG needle examination occurs in ∼75% of individuals with HyperPP and in all patients with PMC; EMG myotonia does not occur in HypoPP. Electrodiagnostic studies at room temperature and after cooling the extremity may be more sensitive for HyperPP and PMC. The long exercise protocol also may detect a delayed decrement in ATS patients (Katz et al., 1999)." (more information at the following link)

http://brain.oxfordjournals.org/content/129/1/8

"EMG: In between attacks, there may be fibrillation
and complex repetitive discharges, increased by
cold and decreased by exercise (in hypokalaemic
periodic paralysis). During attacks, EMG will show
electrical silence, in both hyper- and hypokalaemic
periodic paralysis."
Electrodiagnostic testing is helpful in guiding genetic testing and in distinguishing between PP and other forms of weakness. Some patients with hyperkalemic PP show an initial increment during the
short exercise protocol.14 However, the short exercise test does not have significant diagnostic value in PP as most patients show no abnormalities.14 The LET is more useful in these patients. Some patients with hyperkalemic PP exhibit electrical myotonia; this finding is not described in hypokalemic PP.11,14
Long exercise test
LET is also typically performed stimulating the ulnar nerve at the wrist and recording the ADM motor responses. Supramaximal ADM responses are recorded at baseline, throughout 5 minutes of exercise, and then more than 45 to 60 minutes following exercise; investigators vary on the frequency of recordings following exercise.14,16,19 for 5 minutes with periodic, short-rest periods every 15 seconds. CMAPs are recorded after each minute of exercise. Some investigators then record postexercise CMAPs every minute for 5 minutes followed by every 5 minute CMAPs for 40 to 45 minutes.14 Others recommend postexercise CMAPs every 1 to 2 minutes for 30 to 45 minutes.19  In the initial version of the LET, decrements in amplitude and area were measured from the maximal CMAP obtained during or immediately after exercise.19,20 Subsequent investigators have measured decrement from the baseline 45 minutes.14  Others recommend postexercise CMAPs every 1 to 2 minutes for 30 to 45 minutes.19 In the initial version of the LET, decrements in amplitude and area were measured from the maximal CMAP obtained during or immediately after exercise.19,20 Subsequent investigators have measured decrement from the baseline demonstrated to have a sensitivity of 80% to 100%, which improved to 100% if CMAP area was examined alone.16 Normal controls typically show a small increment in amplitude and area (10%) following exercise and a subsequent decrement of 15% in amplitude and area compared with maximal-exercise CMAP (never more than 30%).19,20 

An abnormal decrease is defined as 40.9% for amplitude and 48% for area (2 SDs).19,20 When recorded after each minute of exercise. Some investigators then record postexercise CMAPs every minute for 5 minutes followed by every 5 minute CMAPs for 40 to 45 minutes.14 Others recommend postexercise CMAPs every 1 to 2 minutes for 30 to 45 minutes.19 In the initial version of the LET, decrements in amplitude and area were measured from the maximal CMAP obtained during or immediately after exercise.19,20 Subsequent investigators have measured decrement from the baseline CMAP obtained before exercise.14 One study shows the methods to be similar, although use of the preexercise baseline may be less sensitive in hyperkalemic PP.16 Among the small cohorts studied, the LET has a sensitivity of 80% to 90% in both hypokalemic PP and hyperkalemic PP.12,14,19,20 In one series of ATS, the LET was demonstrated to have a sensitivity of 80% to 100%, which improved to 100% if CMAP area was examined alone.16
           
Normal controls typically show a small increment in amplitude and area (10%) following exercise and a subsequent decrement of 15% in amplitude and area compared with maximal-exercise CMAP (never more than 30%).19,20 An abnormal decrease is defined as 40.9% for amplitude and 48% for area (2 SDs).19,20 When measured from preexercise baseline, an abnormal decrement in CMAP amplitude is defined as greater than 20% of baseline.14
        
Two typical LET patterns are observed in PP, which may help to distinguish between calcium and sodium channel mutations.14 Patients with a sodium channel mutation often exhibit Fournier pattern IV (Fig. 3) manifest by an increment in CMAP amplitude/area with exercise followed by a decrement in amplitude/area 40% to 80% of baseline (dependent on method); maximal decrement is observed between 30 and 45 minutes postexercise.14,16,20 Fournier pattern V manifest by a maximal decrement in area/amplitude after 20 to 40 minutes is more typical of calcium channel-related PP;
this decrement may or may not be preceded by an initial increment in CMAP amplitude/area.14,16,20 However, there is some cross over between pattern IV and V in hyperkalemic and hypokalemic PP, which may be explained by the proportion of hypokalemic PP patients who have an SCN4A mutation.14 Pattern V is most typical
in ATS.16

https://depts.washington.edu/neurolog/images/emg-resources/Myotonic_Disorders.pdf

Until later...

Wednesday, February 18, 2015

350 Members!!

Congratulations to us all at the PPN Support, Education and Advocacy Group!!! We now have over 350 members!!!!!!!! Thank you all for your support!!!


Our PPN Forum:
The following are the services and features of our PPN forum:
PPN Support, Education and Advocacy Group:
https://www.facebook.com/groups/periodicparalysisnetworksupportgroup/
PPN Website: www.periodicparalysisnetwork.com
PPN Books: "Living With Periodic Paralysis: The Mystery Unraveled" and "The Periodic Paralysis Guide And Workbook: Be The Best You Can Be Naturally"
(Found on our website http://www.periodicparalysisnetwork.com/books.htm)
PPN Blog: http://livingwithperiodicparalysis.blogspot.com/
PPN Book Discussion Group:
https://www.facebook.com/groups/periodicparalysisnetwork/
PPN Genealogy-Genetic Discussion Group:
https://www.facebook.com/groups/580168915344191/
PPN Website Facebook Page:
https://www.facebook.com/PeriodicParalysisNetwork
PPN Author's Page:
https://www.facebook.com/SusanQKnittleHunterauthor
GoFundMe: http://www.gofundme.com/ftnr50
Bravelets: https://www.bravelets.com/…/alone-in-the-dark-periodic-para…
Email: periodicparalysisnetwork@gmail.com
Please check out our PPN Members World Map: http://www.multiplottr.com/?map_id=55083

Friday, February 6, 2015

Happy Periodic Paralysis Awareness Day and Happy Fourth Anniversary for PPNI!!!!


Hello All,

Happy 4th Anniversary to the Periodic Paralysis Network, Inc.
and
Happy 2nd Periodic Paralysis Awareness Day!!

Four years ago, today, I received my diagnosis for Andersen-Tawil Syndrome. It is the day the Periodic Paralysis Network was born. Not finding the kind of help or support I needed, Calvin and I created a small website and began to share what we had discovered and attempted to provide the help, support, education and advocacy, which I could not find anywhere else.

The Periodic Paralysis Network has grown into a huge forum now with nearly 350 members!! We have the following features:

PPN Website: www.periodicparalysisnetwork.com

PPN Blog: http://livingwithperiodicparalysis.blogspot.com/

PPN Book Discussion Group:
https://www.facebook.com/groups/periodicparalysisnetwork/

PPN Books: http://www.periodicparalysisnetwork.com/books.htm
"Living With Periodic Paralysis: The Mystery Unraveled"
"The Periodic Paralysis Guide And Workbook: Be The Best You Can Be Naturally"
PPN Genealogy-Genetic Discussion Group:
https://www.facebook.com/groups/580168915344191/

PPN Website Facebook Page:
https://www.facebook.com/PeriodicParalysisNetwork

PPN Author's Page:
https://www.facebook.com/SusanQKnittleHunterauthor

PPN Members World Map: http://www.multiplottr.com/?map_id=55083

Email: periodicparalysinetwork@gmail.com

GoFundMe: http://www.gofundme.com/ftnr50



We finally became Incorporated October 1, 2014!!

Thank you all for your continued support and friendship!!

Until later…

Monday, February 2, 2015

Compilation of Articles Written About Drugs and Periodic Paralysis



Hello All,
I have complied a list of all of the articles I have written or compiled related to the use of drugs, medications, pharmaceuticals, anesthesia and potassium in Periodic Paralysis. I hope this will be helpful to you.

Why We Need To Avoid Drugs/Medications/Pharmaceuticals:
http://livingwithperiodicparalysis.blogspot.com/2013/12/idiosyncratic-and-paradoxical-reactions.html

http://livingwithperiodicparalysis.blogspot.com/2013/11/pharmaceuticals-are-not-answer-for-some.html

Drugs As Triggers:
https://www.facebook.com/notes/periodic-paralysis-network-support-group/link-to-article-about-triggers-and-medications-that-cause-weakness-and-paralysis/757072264324880

https://www.facebook.com/notes/periodic-paralysis-network-support-group/medications-to-avoid-including-for-long-qt/827750237257082

http://livingwithperiodicparalysis.blogspot.com/2013/12/triggers-december-1-2013.html

Diamox/Acetazolamide:
http://livingwithperiodicparalysis.blogspot.com/2013/12/periodic-paralysis-and-metabolic.html

http://livingwithperiodicparalysis.blogspot.com/2014/02/some-forms-of-pp-worsened-by-diamox.html

http://livingwithperiodicparalysis.blogspot.com/2014/06/beware-of-off-label-drugs.html

IV’s:
http://livingwithperiodicparalysis.blogspot.com/2013/12/why-people-with-some-forms-of-periodic.html

Anesthesia:
http://livingwithperiodicparalysis.blogspot.com/2014/02/periodic-paralysis-and-anesthesia.html

Use Of Potassium:
http://livingwithperiodicparalysis.blogspot.com/2014/07/types-of-potassium.html

Until later...

Tuesday, December 16, 2014

325 Members!!

Congratulations to us all at the Periodic Paralysis Network Support, Education and Advocacy Group!!! We now have over 325 members!!!!!!!! Thank you all for your support!!!

Our PPN Forum:

The following are the services and features of our PPN forum:

PPN Support, Education and Advocacy Group:
https://www.facebook.com/groups/periodicparalysisnetworksupportgroup/

PPN Website: www.periodicparalysisnetwork.com

PPN Books: "Living With Periodic Paralysis: The Mystery Unraveled" and "The Periodic Paralysis Guide And Workbook: Be The Best You Can Be Naturally"
(Found on our website http://www.periodicparalysisnetwork.com/books.htm)

PPN Blog: http://livingwithperiodicparalysis.blogspot.com/

PPN Book Discussion Group:
https://www.facebook.com/groups/periodicparalysisnetwork/

PPN Genealogy-Genetic Discussion Group:
https://www.facebook.com/groups/580168915344191/

PPN Website Facebook Page:
https://www.facebook.com/PeriodicParalysisNetwork

PPN Author's Page:
https://www.facebook.com/SusanQKnittleHunterauthor

Email: periodicparalysisnetwork@gmail.com

Please check out our PPN Members World Map: http://www.multiplottr.com/?map_id=55083

Sunday, December 14, 2014

The Survey Results: Part One


Hello All,

I have decided to present the results of the set of surveys in articles on our blog. It may take three or four articles to complete the project. The following is the first, as I wrote it last year when it was first completed.


The Periodic Paralysis Network, Inc (PPNI) Project:

Creating Guidelines/Criteria
For
Diagnosing Various Forms of Periodic Paralysis Clinically
(Without using Genetic Testing)


This project, Creating Guidelines/Criteria For Diagnosing Various Forms of Periodic Paralysis Clinically (Without using Genetic Testing), was created, designed and executed by the Periodic Paralysis Network, Inc. This project was deemed necessary after reports for the past nearly four years of the inability of many individuals throughout the world, with severe and obvious symptoms of the various forms of Periodic Paralysis, to obtain a diagnosis despite the fact that everything else had been ruled out. Also, some medical professionals called “specialists” in the field of Periodic Paralysis have been known to overturn diagnoses already received by patients from other doctors. The excuses given by these medical professionals and specialists for denying a diagnosis or removing a diagnosis indicate a severe lack of up-to-date knowledge and true understanding of Periodic Paralysis.

About 40% of all individuals suffering from the devastating affects of various forms of Periodic Paralysis do not have a known genetic mutation. By the time some one discovers this, many, many years have passed after many misdiagnoses, wrong medications and treatment and more. Most doctors will not diagnose someone without a known genetic code. Other doctors will not diagnose based on a lack of knowledge or by using outdated information.
Without a diagnosis individuals cannot get the medications they need or may be given medications, which may harm or kill them. They may not be able to get disability or they may have to continue to work, which may make them worse. Some may attempt to prove they have PP by provoking symptoms, which can kill them. This does not happen in other medical conditions or diseases. Other conditions and diseases are diagnosed based on their symptoms. This is called a “clinical” diagnosis.
We are attempting to create a set of symptoms and characteristics called criteria, to be used by doctors to make a clinical diagnosis, once everything else has been ruled out. Orginally, this final report or study was to be presented to a team of doctors, who are not related to the PP “specialists”, but a set of fresh eyes, to look at the results. Due to the knowledge that it may not be published, we have decied to present it in this manner, on our blog as a series of articles. It is our hope that this report, in its entirety, will hopefully be used as a guideline for any doctor to diagnose all forms of Periodic Paralysis based strictly on the symptoms of the individuals.
Many members of our on-line Support, Education and Advocacy Group at the Periodic Paralysis Network, Inc who are not diagnosed genetically, display many of the same symptoms and characteristics of Andersen-Tawil Syndrome (ATS) but have many more symptoms, which they share but are out of the ordinary for ATS and seems to have an autoimmune component. We believed at the beginning of this endeavor there may be a type of ATS without a known genetic code, which we called Periodic Paralysis+10 Syndrome. We hoped the data collected may shed some light on this possibly new form. We, in fact, were surprised by what the results actually uncovered. The new information took us in another direction and revealed much more about Periodic Paralysis; how it progresses and how to diagnose it in a very new manner.

The following is our original plan:

The Project Outline
The Goals and Objectives

Goal 1:
The first goal of this project is to provide medical professionals with a means to recognize and diagnose three forms of a medical condition known as Periodic Paralysis to include: Hypokalemic Periodic Paralysis, Hyperkalemic Periodic Paralysis and Normokalemic Periodic Paralysis, which either have no identifiable genetic code, or without the use of genetic testing through a set of criteria to be established with this study.

Objective 1:
Gather data from a group of individuals exhibiting similar symptoms of periodic paralysis, other similar symptoms experienced regularly yet unexplained, potassium levels and affects of potassium, similar co-existing diseases and conditions, similar unique physical characteristics, similar medical history, similar family history, similar results of medical testing and with or without known genetic mutation discovered. This group may include individuals with clinical diagnoses of various forms Periodic Paralysis.

Data to gather:
Description of the paralytic episodes
Other symptoms experienced regularly yet unexplained
Potassium levels and effects of potassium
Diagnosed diseases/conditions co-existing with periodic paralysis
Unique physical characteristics
Unique characteristics regarding medications
Patient medical history
Family medical history
Medical tests completed and results
Clinical diagnosis (if applies)

Objective 2:
Organize data from a group of individuals exhibiting similar symptoms of periodic paralysis, other similar symptoms experienced regularly yet unexplained, potassium levels and effects of potassium, similar co-existing diseases and conditions, similar unique physical characteristics, similar unique characteristics regarding medications, similar medical history, similar family history, similar results of medical testing and with or without known genetic mutation discovered. This group may include individuals with clinical diagnoses of various forms Periodic Paralysis.

Locate:
Matching symptoms accompanying paralytic episodes
Matching symptoms experienced regularly yet unexplained
Matching diagnosed diseases/conditions co-existing
Matching unique physical characteristics
Matching unique characteristics regarding medications
Matching patient medical history
Matching family medical history
Matching medical tests completed and results
Matching clinical diagnosis (if applies)

Objective 3:
Create a set of criteria for making a clinical diagnosis for three forms of a medical condition known as Periodic Paralysis to include: Hypokalemic Periodic Paralysis, Hyperkalemic Periodic Paralysis and Normokalemic Periodic Paralysis, which, either have no identifiable genetic code, or without the use of genetic, based on matching symptoms accompanying paralytic episodes, matching symptoms experienced regularly yet unexplained, potassium levels and effects of potassium, matching diagnosed diseases/conditions co-existing, matching unique physical/other characteristics, matching unique characteristics regarding medications, matching patient medical history, matching family medical history, matching medical tests completed and results and matching clinical diagnosis (if applies).
           
            Set of criteria:
            Symptoms of paralytic attack:
            Symptoms experienced regularly yet unexplained:
            Potassium levels and affects of potassium:
Diagnosed diseases/conditions co-existing:
            Unique physical/other characteristics:
            Unique characteristics regarding medications:
Medical history:
            Family history:
            Medical tests results:
All else ruled out:

Clinical diagnosis of Hypokalemic Periodic Paralysis
Clinical diagnosis of Hyperkalemic Periodic Paralysis
Clinical diagnosis of Normokalemic Periodic Paralysis

Objective 4:
Provide the results of this study to a team of medical professionals who specialize in diagnosing difficult to diagnose conditions, unrelated to any specialists of Periodic Paralysis or Andersen-Tawil Syndrome, with the intention of the acceptance of the criteria as standard for diagnosing Hypokalemic Periodic Paralysis, Hyperkalemic Periodic Paralysis and Normokalemic Periodic Paralysis which have no identifiable genetic code, or without the use of genetic testing.

Goal 2:
The second goal of this project is to provide medical professionals with a means to recognize and diagnose a new form of a medical condition known as Periodic Paralysis to be further known as Periodic Paralysis Plus 10 Syndrome (PP+10) which has no identifiable genetic code, through a set of criteria to be established with this study.
 (This condition has symptoms and characteristics which resemble a form of Periodic Paralysis known as Andersen-Tawil Syndrome. Individuals with this form have no identifiable genetic code and have at least 10 similar symptoms in common, as well as, a myriad of accompanying autoimmune/inflammatory conditions to be described in the final report.)

Objective 1:
Gather data from a group of individuals exhibiting similar symptoms of periodic paralysis, other similar symptoms experienced regularly yet unexplained, potassium levels and affects of potassium, similar co-existing diseases and conditions, similar unique physical characteristics, similar medical history, similar family history, similar results of medical testing and with or without known genetic mutation discovered. This group may include individuals with clinical diagnoses of various forms Periodic Paralysis.

Data to gather:
Description of the paralytic episodes
Other symptoms experienced regularly yet unexplained
Potassium levels and affects of potassium
Diagnosed diseases/conditions co-existing with periodic paralysis
Unique physical characteristics
Unique characteristics regarding medications
Patient medical history
Family medical history
Medical tests completed and results
Clinical diagnosis (if applies)

Objective 2:
Organize data from a group of individuals exhibiting similar symptoms of periodic paralysis, other similar symptoms experienced regularly yet unexplained, potassium levels and affects of potassium, similar co-existing diseases and conditions, similar unique physical characteristics, similar unique characteristics regarding medications, similar medical history, similar family history, similar results of medical testing and with or without known genetic mutation discovered. This group may include individuals with clinical diagnoses of various forms Periodic Paralysis.

Locate:
Matching symptoms accompanying paralytic episodes
Matching symptoms experienced regularly yet unexplained
Matching diagnosed diseases/conditions co-existing
Matching unique physical characteristics
Matching unique characteristics regarding medications
Matching patient medical history
Matching family medical history
Matching medical tests completed and results
Matching clinical diagnosis (if applies)

Objective 3:
Create a set of criteria for making a clinical diagnosis for a new form of a medical condition known as Periodic Paralysis to be further known as Periodic Paralysis Plus 10 Syndrome (PP+10) which has no identifiable genetic code based on matching symptoms accompanying paralytic episodes, matching symptoms experienced regularly yet unexplained, potassium levels and affects of potassium, matching diagnosed diseases/conditions co-existing, matching unique physical/other characteristics, matching unique characteristics regarding medications, matching patient medical history, matching family medical history, matching medical tests completed and results and matching clinical diagnosis (if applies).
           
            Set of criteria:
            Symptoms of paralytic attack:
            Symptoms experienced regularly yet unexplained:
            Potassium levels and affects of potassium:
Diagnosed diseases/conditions co-existing:
            Unique physical/other characteristics:
            Unique characteristics regarding medications:
Medical history:
            Family history:
            Medical tests results:
All else ruled out:

Clinical diagnosis of Periodic Paralysis Plus 10 Syndrome (PP+10)

Objective 4:
Provide the results of this study to a team of medical professionals who specialize in diagnosing difficult to diagnose conditions, unrelated to any specialists of Periodic Paralysis or Andersen-Tawil Syndrome with the intention of the acceptance of Periodic Paralysis Plus 10 Syndrome (PP+10) as a form of Periodic Paralysis and the acceptance of the criteria as standard for diagnosing Periodic Paralysis Plus 10 Syndrome (PP+10) clinically; without using genetic testing.


The Results :

The Execution



The information and data obtained for this study was gathered through a series of four surveys presented to the on-line Support and Educational Group at the Periodic Paralysis Network. Sixty-one members of the eighty members at the time of the study participated in the survey. The sixty-one members included:



23% (14) males ages 13 to 67

77% (47) females ages 9 to 82


Average age of members 50 years


18% (11) had genetic diagnoses

  8 = Hypokalemic Periodic Paralysis

  1 = Hyperkalemic Periodic Paralysis

  2 = Andersen-Tawil Syndrome



51% (31) had clinical diagnoses

24 = Hypokalemic Periodic Paralysis

  1 = Hyperkalemic Periodic Paralysis

  3 = Andersen-Tawil Syndrome



31% (19) had no diagnosis

  9 suspect Hypokalemic Periodic Paralysis

  2 suspect Normokalemic Periodic Paralysis

  1 suspect Hyperkalemic Periodic Paralysis

  4 suspect Andersen-Tawil Syndrome


First signs of Periodic Paralysis range from birth to 55 years of age



Number of years presently waiting for a diagnosis range from 2 years to 61 years



100% experience periods of muscle weakness

  75% (46) experience full body paralysis

  25% (15) experience no full body paralysis (2 with genetic diagnoses)



The Description of Paralytic Episodes (Despite the form of Periodic Paralysis or if they were diagnosed clinically, genetically or still waiting for a diagnosis)
 

Description of the Paralytic Episodes
Full body Paralysis 75% (46)
Partial body paralysis 85% (52)
Periods of muscle weakness 97% (59)
Blood pressure issues 49% (30)
Heart issues 79% (48)
Breathing issues 70% (43)
Choking issues 5% (3)
Swallowing issues 20% (12)
Pain  (before, during or after) 85% (52)
Falls/drops 8% (5)
Eyes closed 26% (16)


Until Later...

Saturday, December 6, 2014

The Connection Between Mitochondria and Autoimmune Disease in Periodic Paralysis


The Connection Between Mitochondria and Autoimmune Disease

I wrote about the connection between mitochondrial issues and autoimmune dysfunction in the new book, “The Periodic Paralysis Guide And Workbook: Be All You Can Be Naturally.” I did not go into the research and the infromation that led me to my findings. Although I had written about this for the members in our PPNI Support Group, I felt it was important to add that information to our blog for others to read about and understand.

I am now posting what I wrote last year.


November 3, 2013

Yesterday I spent a great deal of time researching the connections between Periodic Paralysis and lactic acidosis. I did this because of several reasons, but mostly due to the results of a set of tests done a few years ago, that no doctor seems to know what it means or what to do about it. 
           
I posted these a few weeks ago but I am posting it again in order to further explain what I discovered yesterday which may be a major break through for us all !

The following is the results of the Amino Acid Plasma Quantitative Test :

Aspartic Acid (<2, 0-6) and 3 Methylhistidine (<;6, 0-64) were low and Proline Plasma (501, 110-360), Alanine Plasma (744, 230-510), Valine (331, 150-310) Plasma, Tyrosine Plasma (107, 45-74), Homcysteine Plasma (11.9, 4.0-12.0), and Pyruvic Acid (0.146, 0.030-0.107) were all high. Lactic Acid was high also (1.8, .5-1.6)

"The high Alanine Plasma indicates: Primary or Secondary Lactic Acidosis or Hyperammonemic Syndrome. Clinical findings may be episodic. Further workup may be warranted."

"Hyperprolinemia is consistent with Mitochondrial Dysfunction or may indicate Type 1 or Type 2 Hyperprolinemia. Further analysis may be warranted."

"Recommend measurement of blood lactate and repeat of the Plasma Amino Acid Analysis."

These test results indicate "primary or secondary lactic acidosis" and Mitochondrial Dysfunction.

My real eye opener came when I read this:

"Metabolic dysregulation can also cause mitochondrial dysfunction. Vitamins, minerals, and other metabolites act as necessary cofactors So, wanting to understand how I could have Periodic Paralysis, over 10 autoimmune condition diagnoses AND Mitochondrial Dysfunction, I set out to find some answers. The discovery I made was unbelievable. Karen Carr has mentioned mitochondrial issues on this board for as long as I can remember. I have read through the complicated articles, etc. and I never quite understood the connection. I will try to put this in an easy to understand format, though it may be a little difficult to follow.

First of all...a biology lesson: There are many mitochondria in a cell. Mitochondria can became damaged for many reasons and then mutate or change. When this happens we can then have "Mitochondrial Dysfunction", leading to things such as lactic acidosis.

There are of course, Mitochondrial Disorders that can be present at birth also which I knew. I had no idea that we can "develop" them.

“…..for the synthesis and function of mitochondrial enzymes and other compounds that support mitochondrial function (see Table 4 ), and diets deficient in micronutrients can accelerate mitochondrial decay and contribute to neurodegeneration (Ames, 2004)"

However, since symptoms vary from case to case, age of onset, and rate of progression, mitochondrial dysfunction can be difficult to diagnose when it first appears. According to Cohen, who wrote a July 2001 article in the Cleveland Clinic Journal of Medicine, “The early phase can be mild and may not resemble any known mitochondrial disease. In addition, symptoms such as fatigue, muscle pain, shortness of breath, and abdominal pain can easily be mistaken for collagen vascular disease, chronic fatigue syndrome, fibromyalgia, or psychosomatic illness”

http://www.nbihealth.com/publications/Mitochondrial_dysfunction.pdf

Periodic Paralysis is a 4th Class Metabolic Dysregulation (Disorder)!!!!!! Periodic Paralysis can cause Mitochondrial Dysfunction!!!!!!!!! Obviously the potassium shifting can cause the damage to the mitochondria in the cells!!!!!! We already know there seems to be an issue with autoimmune issues....Here is the connection!!!!

"…diets deficient in micronutrients can accelerate mitochondrial decay"

THIS IS WHY THE BALANCED DIET IS SO IMPORTANT TO US AND WE SEE DIFFERENCES WHEN WE CUT OUT THE JUNK AND ADD SUPPLEMENTS!!!!!!!

"…symptoms such as fatigue, muscle pain, shortness of breath, and abdominal pain can easily be mistaken for collagen vascular disease, chronic fatigue syndrome, fibromyalgia, or psychosomatic illness”  (MUSCLE PAIN, SHORTNESS OF BREATH, FIBROMYALGIA, CONVERSION DISORDER??????)

"Mitochondrial dysfunction is at the core of a surprising range of very common illnesses and conditions...Even autoimmune diseases such as multiple sclerosis, Sjogrens syndrome, lupus and rheumatoid arthritis appear to have a mitochondrial basis to illness.

Mitochondrial dysfunction has been associated with a wide range of solid tumors, proposed to be central to the aging process, and found to be a common factor in the toxicity of a variety of physical and chemical agents."

http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934637

"EVEN AUTOIMMUNE DISEASES"!!!!!!!!!!!!!

"…toxicity of a variety of physical and chemical agents"    (The ISSUES WE HAVE WITH ALLERGIES AND PROBLEMS ITH MEDICATIONS????)

Table 1
Signs, symptoms, and diseases associated with mitochondrial dysfunction
(Cohen and Gold, 2001)

Organ system: Possible symptom or disease

Muscles: Hypotonia, weakness, cramping, muscle pain,
ptosis, opthalmoplegia

Brain: Developmental delay, mental retardation, autism, dementia, seizures, neuropsychiatric disturbances, atypical cerebral palsy, atypical migraines, stroke, and stroke-like events

Nerves: Neuropathic pain and weakness (which may be intermittent), acute and chronic inflammatory demyelinating
polyneuropathy, absent deep tendon reflexes, neuropathic

gastrointestinal problems (gastroesophageal reflux,
constipation, bowel pseudoobstruction), fainting, absent
or excessive sweating, aberrant temperature regulation

Kidneys: Proximal renal tubular dysfunction (Fanconi syndrome); possible loss of protein (amino acids), magnesium, phosphorus, calcium, and other electrolytes

Heart: Cardiac conduction defects {(electrical system)} (heart blocks), cardiomyopathy

Liver: Hypoglycemia, gluconeogenic defects, nonalcoholic
liver failure

Eyes: Optic neuropathy and retinitis pigmentosa

Ears: Sensorineural hearing loss, aminoglycoside sensitivity

Pancreas: Diabetes and exocrine pancreatic failure

Systemic: Failure to gain weight, short stature, fatigue, and respiratoryproblems including intermittent air hunger

http://www.nbihealth.com/publications/Mitochondrial_dysfunction.pdf

"Exercise intolerance is a well recognized clinical feature of mitochondrial respiratory chain defects due to pathogenic mutations of mitochondrial or nuclear DNA. Severely impaired muscle oxidative phosphorylation results in disabling exercise limitations in which trivial exertion produces muscle fatigue and lactic acidosis. In such patients, low levels of exercise cause prominent tachycardia and dyspnoea (shortness of breath) due to increases in cardiac output and ventilation that exceed the capacity of skeletal muscle to utilize the increase in oxygen delivery mediated by these physiological responses"

".....results in disabling exercise limitations in which trivial exertion produces muscle fatigue and LACTIC ACIDOSIS."
EXERCISE INTOLERANCE and LACTIC ACIDOSIS!!!!! from the Mitochondrial Dysfunction!!!!!

"Oxygen utilization and Lactic Acidosis”

“Latic acidosis has often been used as an indicator of impaired oxidative metabolism and as a clinical marker for mitochondrial disorders…elevated lactate values at rest strengthen the possibility of a mitochondrial disorder."

http://ghr.nlm.nih.gov/mitochondrial-dna

LACTIC ACIDOSIS a cause of low oxygen levels.....

"In such patients, low levels of exercise cause prominent tachycardia and dyspnoea (shortness of breath) due to increases in cardiac output and ventilation that exceed the capacity of skeletal muscle to utilize the increase in oxygen delivery mediated by these physiological responses"...........

So...could this be abortive attacks or what we may be mistaking for PP episodes in normal ranges or it just happens and we wonder why...we cannot figure out a trigger????? We take potassium when we do not need to and it causes side effects, hyperkalemia???

"In conclusion, this study reveals a wide spectrum of oxidative limitations and exercise capacities........It illuminates the relationship between severity of muscle oxidative defects and symptoms of exercise intolerance in MM patients. Furthermore, it provides insight into the regulatory mechanisms responsible for characteristic physiological responses to exercise in these patients,"

http://ghr.nlm.nih.gov/mitochondrial-dna

"oxidative limitations" problems with oxygen...fluctuating oxygen levels....going down upon exertion....... 

Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of many mitochondrial disorders is thought to be associated with the percentage of mitochondria with a particular genetic change.

http://ghr.nlm.nih.gov/mitochondrial-dna

So there may be varying degrees and severity among us and I suspect that, of course, as we age the symptoms worsen such as the permanent muscle weakness, breathing issues, etc....Thus the importance of stopping the attacks with diet, avoiding triggers, etc as soon as possible when we are young...hopefully avoiding the damage to the mitochondria over a long period of time.....

MY THEORY: Periodic Paralysis, a mineral metabolic disorder, can cause damage to the mitochondria in the cells due to the atypical shifting of potassium. This damage to the DNA of the mitochondria, in turn contributes to the development of autoimmune disorders.

The longer a person with Periodic Paralysis goes with out a diagnosis and without proper treatment and continual atypical potassium shifting, the more chance there is for damage to the mitochndria, which then creates autoimmune diseases.

Periodic Paralysis is difficult to diagnose. Mitochondrial dysfunction is difficult to diagnose. Symptoms of both appear similar to "conversion disorders".  More time passes. Autoimmune diseases develop further clouding the picture of the basic disease...Periodic Paralysis. Damage is irreversible and becomes progressive causing permanent muscle weakness, oxygen issues, cardiac issues...etc.

November 5, 2013
Good Morning Everyone!

This is about Exercise Intolerance......

When I wrote about my discovery yesterday, I forgot to mention how our exercise intolerance may play into this. So, today I will discuss that connection with:

"MY THEORY: Periodic Paralysis, a mineral metabolic disorder, can cause damage to the mitochondria in the cells due to the atypical shifting of potassium. This damage to the DNA of the mitochondria, in turn contributes to the development of autoimmune disorders."

This is based on the fact that metabolic disorders and other issues can cause damage to the mitochondria in cells (probably due to the atypical shifting of potassium). The DNA of the mitochondria gets damaged. Damaged mitochondria then may begin to develop autoimmune disorders. This is all factual except what is in the parentheses...I am not sure of the process for the damage.

This is all related to how the complicated oxygen cycle works in our cells and bodies. That being said, this is the part forgot:

"Exercise intolerance is a well recognized clinical feature of mitochondrial respiratory chain defects due to pathogenic mutations of mitochondrial or nuclear DNA. Severely impaired muscle oxidative phosphorylation results in disabling exercise limitations in which trivial exertion produces muscle fatigue and lactic acidosis. In such patients, low levels of exercise cause prominent tachycardia and dyspnoea due to increases in cardiac output and ventilation that exceed the capacity of skeletal muscle to utilize the increase in oxygen delivery mediated by these physiological responses (Haller and Bertocci, 1994). "

This says that exercise intolerance is related to mutations of the mitochondria. The oxygen cycle does not work properly and then we are unable to do anything in which we must exert ourselves, even the smallest amount of exertion causes muscle weakness and lactic acidosis and then tachycardia and shortness of breath set in. This is because the heart must work harder to try to keep up with a lack of oxygen the muscles are receiving and (our body is not expelling the carbon dioxide as it should).
 
"......in patients .......peak oxygen uptake and mitochondrial capacity for oxidative phosphorylation decreased in proportion to increasing mutation load in muscle. "

"This study is the first to relate the severity of the skeletal muscle oxidative defect to the severity of mismatch between the exercise increase in cardiac output and oxygen uptake."

As we exert ourselves and need more oxygen, we do not get it. The more exertion, the less amount of oxygen.

"This study demonstrates for the first time that exaggerated ventilation relative to oxygen utilization ........ is related to the degree of oxidative impairment. Hyperventilation was more pronounced in patients with more severe oxidative defects, consistent with symptoms of exertional dyspnoea experienced by many patients. The mechanism underlying this hyperventilatory exercise response may relate to excess carbon dioxide production due to lactate buffering, as suggested by the finding of a correspondingly exaggerated respiratory exchange ratio..."

http://brain.oxfordjournals.org/content/126/2/413.long

The more we exert ourselves the more carbon dioxide builds up.

This may be the reason for our exercise intolerance.

This may be why also, when you go to the doctor and they take your blood oxygen level with the finger oximeter it is just fine, because you are sitting and have been for awhile, but you know you are having problems with your breathing, etc they do not think you need oxygen. They need to test you with an overnight or 24 hour recording oximeter. It should show oxygen level decreases during exercise and episodes of paralysis, etc....any exertion.

I am on oxygen 24/7 because my oxygen drops any time I exert myself, even talking on the telephone, going to the bathroom, etc at the same time, my heart rate increases and breathing gets difficult. This is happening even with my oxygen. I can only imagine how bad it would be without my oxygen.

Before I was on it, I could not even sit up to a meal at the table. It was too much exertion. Even now, sitting up straight for any length of time is too taxing...why I have a reclining feature on my power wheelchair.

I hope this information is helpful to you. It explains a lot of what we are all experiencing everyday and not fully understanding it or how it relates to Periodic Paralysis.

I do not know if anyone has put this together like this. I did it quite accidentally. It does seem to make sense. I forgot to mention that the lactic acidosis thing is also something that would be intermittent and may not show up on tests each time. It also needs to be tested using a very rare test: Amino Acid Plasma Quantitative Test it is only interpreted at a few places in the country. One is: Duke Children's Hospital and Health Center in North Carolina

A thought.....If our body is in stress from the lack of appropriate oxygen to the muscles and build up of lactic acidosis and carbon dioxide...would the STRESS be the CAUSE of the paralysis from exercise or exertion and why it happens after we begin to rest after our running around, walking, shopping, cooking dinner, doing dishes, etc?? As we begin to rest, the adrenaline will be released from the stress?? The adrenaline causes paralysis for most of us. 



Until later...