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:
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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:
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This blog was created and designed to educate the world about Periodic Paralysis a rare, inherited, hard to diagnose, debilitating and cruel mineral metabolic disorder. I have two variants of this condition and my life is filled with constant challenges as I attempt to manage my symptoms to stay alive. My husband and I are co-founders of the Periodic Paralysis Network, Inc. This blog is an extension of our educational and support network at www.periodicparalysisnetworkinc.com .
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Tuesday, December 16, 2014
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
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)
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)
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 information 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.
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 co-factors..." 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 WITH
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 respiratory problems
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 mitochondria, 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...
Monday, December 1, 2014
Genetic Mutation Overview
Hello All,
Several months ago I posted this and then removed it. I have decided to post it once again to demonstrate the need for clinical diagnosing and Whole Genome Sequencing (WES) (DNA/Genetic Testing) if possible.
(Added January 12, 2017...Discussion including testing done 'overseas' refers to the testing in Germany that was previously done for people trying to get a diagnosis of PP. About two years ago the testing was stopped after Dr Lehman-Horne retired due to illness and funding was cut. I am not sure how many people were led to believe they did not have PP due to the biased and limited testing. This has created no end of problems for those attempting to get diagnosed and the misconceptions by doctors still relying on biased and limited test results. Only about 50% of genetic mutations for the various forms of PP have actually been found to date. That means about 50% of all people with PP will have test results possibly find a mutation. This number drops significantly in the testing is limited and/or biased.)
Genetic
Mutation Overview for Susan Q. Knittle-Hunter
From:
From:
Ancestry DNA Ethnic DNA Testing
Through:
GEDmatch DNA and Genealogy
Research
Rare SNP (Minor Allele) Search Utility
May 2014
(This is in a smaller font so the charts can post correctly)
(This is in a smaller font so the charts can post correctly)
According to the American Heart Association,
”The approach to genetic studies of complex traits entails candidate gene or
genome-wide association studies. Genome-wide association studies provide an unbiased survey of the effects of common genetic
variants (common disease–common variant hypothesis).”
“Based on today’s knowledge, only 1% of
the human genome is transcribed into mRNA and translated into proteins. An
additional 0.5% serves as a template for noncoding RNA and the regulatory
regions that control gene expression.5 The functions of the remaining
98.5% of the genome including functional conserved noncoding elements, which
comprise at least 6% of the genome,6 remain unknown. Hence, this large
segment of the genome is referred to as the dark matter of the genome.”
This would indicate that genome-wide
genetic testing would be the best way to test for the various forms of Periodic
Paralysis (PP), but since only 1% of human genome has actually been
transcribed, it also indicates why less that half of those tested get negative
results. The research labs run testing only for the tests requested by the
doctors ordering them. If testing for only one form of Periodic Paralysis is
requested, that is all that will be checked. If blood is sent overseas for testing
for Periodic Paralysis, only the known mutations are searched for and they are
either found or not found. There is no research done on what mutations on the
same gene in the same exons or locations mean nor do they report those findings
on the results if they are found in the denial letter sent. This is definite
“bias” in the testing. One is left to believe there is no reason for their
symptoms and to wonder about their own sanity. An individual’s doctors, not
understanding the above information, believe that the person does not have
Periodic Paralysis.
I know that the testing overseas does not test for every known variant of PP. How do I know? Because I have a copy of the letter from them telling me which genes were tested. I also have a copy of my own genetic mutation make-up from Ancestry, which includes all of my known genetic mutations.
Overseas, they sequenced: KCNJ2 (ATS), CACNA1S (4, 11, 21,30), SCN4A (exons 5, 6, 9, 12, 13, 14, 18, 19, 21, 22, 23, 2. These are not the only gene mutations associated with the many forms of Periodic Paralysis 4), Kir2.1, (potassium channels), Nav1.4 (sodium channels), Cav1.1 (calcium channels).
It was added in the letter that my “type of channelopathy is caused by either a mutation located in an exon that was “not” part of the screening program or by a mutation in a new gene still to be indentified.” That is exactly the case.
SCN4A
Searching my own DNA mutations and
researching as I went along (not an easy task it has taken months of research
and study), I discovered that I have five mutations in the SCN4A gene as follows. Three of the mutations were found
on exon 8 which was not included in the testing and the others were not
mentioned to me, though they were found in SCN4A
which is the “sodium channel, voltage-gated, type IV, alpha subunit” and
“mutations in this gene have been linked to several myotonia and periodic
paralysis disorders”:
Mutation
shown in red
RSID
|
Chr
|
Position (B36)
|
Genotype
|
%Occurrence
|
Gene
|
Matching Origins
|
| rs16947296 |
17
|
59397269
|
aG
|
2.22617
|
Exon 8 | |
| rs2008896 |
17
|
59396947
|
aG
|
2.58377
|
Exon 8 & 9 | |
| rs7218917 |
17
|
59399287
|
Ag
|
3.30962
|
Exon 6 | |
| Rs2302236 |
17
|
59402199
|
Ag
|
12.087
|
Exon 5 | |
| rs11079516 |
17
|
59396573
|
Ag
|
13.5948
|
Exon 8 & 9 |
All five mutations are identified as *603967.
*603967 =
|
|||||
SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT;
SCN4A
|
|||||
Alternative titles; symbols
|
|||||
NAV1.4 |
|||||
HGNC Approved Gene Symbol: SCN4A
|
|||||
Location
|
Phenotype
|
Phenotype
MIM number
|
|||
Hyperkalemic periodic paralysis, type 2
|
|||||
Hypokalemic periodic paralysis, type 2
|
|||||
Myasthenic syndrome,
acetazolamide-responsive
|
|||||
Myotonia congenita, atypical,
acetazolamide-responsive
|
|||||
Paramyotonia congenita
|
|||||
Cytogenetic location: 17q23.3
Genomic coordinates (GRCh37): 17:62,015,913
- 62,066,875 (from NCBI)
| |||||
SCN4A is a
Voltage-gated sodium channel.
SCN4A sodium
channel, voltage-gated, type IV, alpha subunit
Also known as: HYPP;
SkM1; HYKPP; NAC1A; HOKPP2; Nav1.4;
Na(V)1.4
The mutations above are directly related to:
“Voltage-gated sodium
channels are transmembrane glycoprotein complexes composed of a large alpha
subunit with 24 transmembrane domains and one or more regulatory beta subunits.
They are responsible for the generation and propagation of action potentials in
neurons and muscle. This gene encodes one member of
the sodium channel alpha subunit gene family. It is expressed in skeletal
muscle, and mutations in this gene have been linked to several myotonia and
periodic paralysis disorders. [provided by RefSeq, Jul 2008]”
The following are the
mutations I discovered. Each one is a definite mutation, which causes Paramyotonia Congenita (PMC) a form of Periodic Paralysis. I have a combination of the three of them:
| 08 | c.1167T>C c.703+55C>T, c.864C>T, |
Tyr389Tyr | SCN4A_00012 | DNA | SEQ | - | - | paramyotonia congenita (OMIM168300) |
http://chromium.liacs.nl/LOVD2/variants.php?select_db=SCN4A&action=search_all&search_Variant%2FDNA=c.1167T%3EC
| 05i | c.703+55C>T | - | r.(?) | p.(=) | (LDGA) |
| 06 | c.864C>T | - | r.(?) | p.(Asn288Asn) | (LDGA) |
| 08 | c.1167T>C | Tyr389Tyr | r.(?) | p.(=) | (LDGA) |
According to Ptácek,
LJ, et al., “Mutations 1, 4, 6, 7, 8, and 18 are associated with PAM; mutations 2, 9,
12, 13, 14, 15, and 16 are associated with PC;
and mutations 3, 5, 10, 11, 17, and 19 are
associated with HyperKPP.” And some
double mutations on exon 5 are now known to cause Hyperkalemic Periodic
Paralysis.
As
listed above for SCN4A, exon 8 was not
tested in the overseas testing. These mutations were not seen. I am not sure
why they did not show up in exon 5 and 6, or if they were disregarded.
Apparently, by themselves, each of these does not cause it, but the combination
does. So it would not be found based on their testing.
I
also discovered that one of those mutations above is responsible for what is
called "enhanced slow inactivation.”
This is related to how long the episode of paralysis/weakness may last. If one
has "enhanced slow inactivation", it causes their episodes to last
longer. My research also led me to the knowledge that a lower pH will help
shorten the length of weakness or prevent it.
There
is no doubt that I have Paramyotonia Congenita. The specific mutations I have at exons 6 and 8 have been
found to be associated with PMC and research indicates that mutations at exon 5
are associated with Hyperkalemic Periodic
Paralysis.
KCNJ5
With the
discovery of a new journal article indicating that mutations at the KCNJ5 gene on
Chromosome 11 is now linked to Andersen-Tawil Syndrome, I searched through my
DNA data. Much to my surprise I discovered I have three mutations on KCNJ5:
Mutation shown in red
RSID
|
Chr
|
Position (B36)
|
Genotype
|
%Occurrence
|
Gene
|
Matching Origins
|
| rs7118824 |
11
|
128287188
|
gT
|
17.1178
|
Exon 2 | |
| rs1317470 |
11
|
128287424
|
aG
|
17.6794
|
Exon 2 | |
| rs11221503 |
11
|
128277662
|
cT
|
19.5168
|
KCNJ5
Ex 2&3
|
“CONCLUSIONS:
Our findings indicate that rs6590357
and rs7118824 [G810T] in KCNJ5 are associated
with early-onset lone AF in Caucasians.”
“The
risk of stroke is increased fivefold in individuals with AF. The degree of
increased risk
may be substantial,
depending on the presence of additional risk factors (such as
This would indicate
that I have the mutation responsible for early onset Atrial Fibrillation.
It has
obviously been aggravated by the potassium shifting from the Periodic
Paralysis. This
has been evident
since my young adulthood. It is now probably responsible for the TIAs
that I have
experienced in the past few months.
The following is
also related to these mutations:
The C11orf45
indicates 3 mutations within the sequence. All three mutations
are identified as *600734.
*600734
|
||||||||||||||
POTASSIUM CHANNEL, INWARDLY RECTIFYING,
SUBFAMILY J, MEMBER 5; KCNJ5
|
||||||||||||||
Alternative titles; symbols
|
||||||||||||||
CARDIAC INWARD RECTIFIER; CIR
G PROTEIN-ACTIVATED INWARDLY RECTIFYING
POTASSIUM CHANNEL 4; GIRK4
INWARDLY RECTIFYING POTASSIUM CHANNEL KIR3.4
KATP1
|
||||||||||||||
HGNC Approved Gene Symbol: KCNJ5
|
||||||||||||||
Cytogenetic location: 11q24.3
Genomic coordinates (GRCh37):
|
||||||||||||||
#613485
|
||||||||||||||
LONG QT SYNDROME 13; LQT13
|
||||||||||||||
TEXT
|
||||||||||||||
A number sign (#) is used with this
entry because long QT syndrome-13
is caused by heterozygous mutation in
the KCNJ5 gene (600734) on
chromosome 11q24.
|
||||||||||||||
According toYosuke Kokunai,
MD, PhD, et al…”We identified a mutation in the KCNJ5 gene, which encodes
the G-protein–activated inwardly rectifying potassium channel 4 (Kir3.4).
We propose that KCNJ5 is a second gene causing Andersen–Tawil syndrome. The
inhibitory effects of mutant Kir3.4 on inwardly rectifying potassium channels may account for
the clinical presentation in both skeletal and heart muscles.”
http://www.neurology.org/content/early/2014/02/26/WNL.0000000000000239.abstract
Mutations in Kv1.4 and Kir3.4 channels are also related to
potassium and pH balance.
http://www.ncbi.nlm.nih.gov/pubmed/15454439
The information above regarding mutations at SCN4A indicates I have issues with sodium Channel, voltage-gated, type IV, alpha subnit and mutations KCNJ5 indicate strong evidence that I have a variant of Andersen-Tawil Syndrome. But I was not told of these mutations and their implications. My researches lead me to even more mutations in my genes related to calcium channels also involved with potassium shifting, periodic paralysis and pH balance.
CACNA1C
I
have mutations on the CACNA1C gene, which
are related to the SCN5A gene. The CACNA1C gene was not tested in the overseas
research. New information has been published to relate
mutations on the CACNAIC gene, also known
as Cav1.1,
is the first calcium channel related to Normokalemic
Periodic Paralysis. I have 24 mutations on this gene!
Mutation shown in red
RSID
|
Chr
|
Position (B36)
|
Genotype
|
%Occurrence
|
Gene
|
Matching Origins
|
| rs2283284 |
12
|
2104022
|
cT
|
2.5786
|
||
| rs2270371 |
12
|
2656118
|
Ag
|
4.48034
|
||
| rs12230535 |
12
|
2117693
|
aG
|
6.29314
|
||
| rs2302727 |
12
|
2644862
|
Ac
|
6.77245
|
||
| rs2239126 |
12
|
2622948
|
Ag
|
7.29738
|
||
| rs215976 |
12
|
2564899
|
cT
|
8.81847
|
||
| rs4765970 |
12
|
2662922
|
aG
|
9.31559
|
||
| rs11831557 |
12
|
2385250
|
Gt
|
9.37356
|
||
| rs7957163 |
12
|
2675893
|
Ac
|
9.68454
|
||
| rs3794288 |
12
|
2659482
|
aG
|
9.96197
|
||
| rs2238096 |
12
|
2620174
|
aC
|
10.311
|
||
| rs2239093 |
12
|
2479823
|
Ag
|
11.1857
|
||
| rs216009 |
12
|
2592794
|
CC
|
11.5033
|
||
| rs1076346 |
12
|
2424539
|
Ct
|
11.8242
|
||
| rs16929471 |
12
|
2472004
|
Ag
|
13.1292
|
||
| rs216013 |
12
|
2599893
|
GG
|
16.2705
|
||
| rs11831085 |
12
|
2385119
|
aG
|
16.3592
|
||
| rs2370515 |
12
|
2381423
|
Ag
|
16.4472
|
||
| rs10848666 |
12
|
2479535
|
Ag
|
16.4819
|
||
| rs1076390 |
12
|
2602980
|
AA
|
16.4989
|
||
| rs2370602 |
12
|
2546944
|
Ct
|
16.5967
|
||
| rs7301013 |
12
|
2378832
|
aG
|
17.0857
|
||
| rs98545 |
12
|
2607556
|
TT
|
17.3897
|
||
| rs215986 |
12
|
2580141
|
cT
|
19.9388
|
According to Lehman-Horn F. et al, “This study shows for the first time that functional characterization of omega pore currents is possible using a cultured cell line expressing mutant Ca(v)1.1 channels. Likewise, it is the first calcium channel mutation for complicated normokalaemic periodic paralysis.” http://www.ncbi.nlm.nih.gov/pubmed/24240197/
*114205
|
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C
SUBUNIT; CACNA1C, also known as Long QT 8
|
Alternative titles; symbols
|
CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1,
CARDIAC MUSCLE; CACNL1A1
CCHL1A1
CaV1.2
CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT
DHPR, ALPHA-1 SUBUNIT
CACH2
|
HGNC Approved Gene Symbol: CACNA1C
|
Cytogenetic location: 12p13.33
Genomic coordinates (GRCh37): 12:2,079,951 - 2,807,114
(from NCBI)
http://omim.org/entry/114205
|
CACNA1C
is an important paralog of the gene SCN5A. This means the genes are related by duplication and they evolve
into a new functions.
http://homepage.usask.ca/~ctl271/857/def_homolog.shtml
http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1C
KCNJ16
and KCNJ2
Although
I do not have KCNJ2 (ATS) mutations, I
have mutations at KCNJ16 on chromosome 17 at 17q23.1-q24.2. KCNJ16 and KCNJ2 (ATS) are separated by only 34 kb,
which is extremely close and there is interaction and interplay between these
two genes.
Mutation shown in red
RSID
|
Chr
|
Position (B36)
|
Genotype
|
%Occurrence
|
Gene
|
Matching Origins
|
| rs8072022 |
17
|
65606151
|
Ct
|
9.80244
|
RSID
|
Chr
|
Position (B36)
|
Genotype
|
%Occurrence
|
Gene
|
Matching Origins
|
| rs2836251 |
21
|
38555062
|
Gt
|
18.8342
|
***http://www.ncbi.nlm.nih.gov/clinvar/RCV000051047/
There are more
mutations related to the above mutations, which I also have. But will not add
them to this list.
KCNQ1
I also know that for
sure I have the mutation for Long QT 1:
Mutation shown in red
RSID
|
Chr
|
Position (B36)
|
Genotype
|
%Occurrence
|
Gene
|
Matching Origins
|
| rs12418076 |
11
|
2645676
|
Ct
|
8.77465
|
||
| rs231887 |
11
|
2695756
|
cT
|
12.6968
|
||
| rs9666604 |
11
|
2654171
|
aG
|
12.7112
|
||
| rs12576239 |
11
|
2458895
|
cT
|
14.8241
|
||
| rs1057128 |
11
|
2753813
|
Ag
|
19.2399
|
KCNQ1 : rs1057128 c.1638G>A (p.Ser546=) AND AllHighlyPenetrant
"AllHighlyPenetrant"
Term used to represent disorders for which a pathogenic allele would be expected to be expressed as the disorder."
This
means if you have this mutation...you have a very high chance of having or
developing the disease.
So it would seem I have PMC and Long QT 1 and the possibility of HyperPP and/or Normo PP and/or ATS.
No wonder I am sick!!
The reason I am
sharing all of this is to let you know that the testing done on one or two
genes, ordered by your doctor, is useless and the testing done overseas is not
testing for every possibility. Many gene mutations work together to create
illness/disease in our bodies. This is explained below.
”SNPs that are not in protein-coding regions may
still affect gene splicing,
transcription factor binding, messenger RNA
degradation, or the sequence of non-coding RNA.
Gene expression affected by this type of SNP is referred to as an eSNP
(expression SNP) and may be upstream or downstream from the gene.
Variations in the DNA
sequences of humans can affect how humans develop diseases and respond
to pathogens, chemicals, drugs, vaccines, and other
agents. SNPs are also critical for personalized medicine.[5] However,
their greatest importance in biomedical research is for comparing regions of
the genome between cohorts (such as with matched cohorts with and without a
disease) in genome-wide association studies.
SNPs are usually
biallelic and thus easily assayed.[6] A single SNP may cause a Mendelian disease.
For complex diseases, SNPs do not usually function
individually, rather, they work in coordination with other SNPs to manifest a
disease condition as has been seen in Osteoporosis.[7]”
http://en.wikipedia.org/wiki/Single-nucleotide_polymorphism
Unless someone can take to time, and hours, days, weeks and months...even years of research like I am doing for myself...these things can and will be missed and overlooked.
Based on all of the above information, we need to be diagnosed clinically, based on our symptoms and whole genome testing needs to be done with the hope that whoever is doing the research understands the workings among and between the genes.
I would like to conclude this article with another article posted recently:
Hello All,
Today one of our extremely conscientious members, who is always researching about all aspects of Periodic Paralysis and sharing the articles she finds with us, posted an article about DNA and genetic testing. The article, which was thirty-five pages long, was filled with a great deal of technical information. I know a lot great deal about DNA and genetic testing from my own study, but it is always very difficult for me to understand when I do read that kind of article. This article was one of those, but as I was reading along, something jumped off the page to me. The following is my response to the article:
Thank you for sharing this with us. As usual when I read about DNA genetic testing I get confused and lost. Although I feel I understand quite a bit about it, the articles always seem to be difficult to understand. However, in this article, one thing popped out to me; the following statement:
"For the great majority of diseases there is extensive allelic heterogeneity, and genetic testing requires a search for any mutation anywhere within or near the relevant gene. The biggest current problem in laboratory genetic diagnosis is the lack of any quick, cheap and reliable method for doing this."
This is exactly what I have been trying to say for quite awhile about our testing for Periodic Paralysis....."GENETIC TESTING REQUIRES A SEARCH FOR ANY MUTATION ANYWHERE WITHIN OR NEAR THE RELEVANT GENE"!!!!!!!!!!
That is what has been missing for most of us whether our genetic testing was done in Germany, or from a doctor's orders somewhere else in the world. The testing was and is too narrow, specific and biased; only looking for specific alleles. The mutations “anywhere within or near the relevant gene” are either ignored or overlooked or not even looked for to begin with. That is why so many people got/get a letter saying they do not have a "known" genetic mutation for Periodic Paralysis. This is definite “bias” in the testing. One is left to believe there is no reason for their symptoms and to wonder about their own sanity. An individual’s doctors, not understanding the above information, believe that the person does not have Periodic Paralysis.
But in reality, I was lucky enough to have a chance to see all of my mutations. Some of my mutations were on different, but recognized exons known to cause PP but were not looked at in the German study. They were not even looked for and some were seen but because they were not the exact allele but right next to it, they were ignored and dismissed. No mention of them was included in the testing result letter. A better way to handle it would have been, first to look at ALL of the known mutations/alleles and then in the letter sent with the results, it should have been stated that similar to my sample letter:
"The results to your DNA testing for Periodic Paralysis are as follows. You have the symptoms of Hyperkalemic Periodic Paralysis. We searched for ALL of the KNOWN mutations for ALL forms of Periodic Paralysis. You do not have the exact and known mutations, but you do have mutations on Exon 7 near the ones that cause Hyperkalemic Periodic Paralysis. Therefore it is likely that you (and possibly your family) have a new or original or unique mutation for Hyperkalemic Periodic Paralysis. This will be documented for your family and for others that may have the same mutation. We need to notify your doctors so that you will be treated from this point on as probably having a form Hyperkalemic Periodic Paralysis. You also need to notify your family members and share this letter with them."
Because this has not happened and I do not expect it to see it happening anytime in the near future and because genetic testing is no longer being done in Germany, and all other testing besides whole genome testing is extremely narrow, diagnosing for Periodic Paralysis must be done by doctors based on the symptoms and characteristics of the individual. This should be done once testing for any other condition in which periods of paralysis or muscle weakness have been ruled out.
The article posted:
http://www.ncbi.nlm.nih.gov/books/NBK7586/?report=reader
Until later...