Balance and Periodic Paralysis

Balance and Periodic Paralysis

Hello All,

I constantly discuss staying ‘totally balanced’ in all ways in order to manage our symptoms…but what does that mean exactly?? The following is my explanation.

Periodic Paralysis is a Mineral Metabolic Disorder, which is also known as an ion channelopathy. This means that the levels of the minerals/electrolytes/ions in the blood can become abnormal or can fluctuate in error depending on several issues. There will be either not enough minerals in the blood or too many minerals in the blood. Many things we call ‘triggers’ can cause this for us including, but not limited to, drugs, IV’s anesthesia, some foods (junk food, processed foods-anything not natural), food fillers and dyes, exercise, exertion, temperature fluctuations, heat, cold, stress, sleep, sodium, sugar, carbohydrates.

For those of us with varying forms of Periodic Paralysis, when a trigger is introduced in our bodies, the minerals shift and it causes many symptoms, most notably, periods of paralysis. These can be either partial or full-body. Therefore it is important for us to stay balanced.

First, this means we must keep the electrolytes/minerals in balance. These include:

potassium (K+) Use potassium meter to monitor levels.

magnesium (Mg++)

sodium (Na+)

chloride (Cl-)

calcium (Ca++)

bicarbonate (HCO3-)

phosphate (HPO4–)

Second, other things that need to be well balanced:

Sugar/glucose: Use glucose meter (blood), follow a diabetic diet and eat smaller amounts more often to prevent sugar highs and lows.

pH/acid/alkaline: Use pH strips (urine and saliva), follow a pH or alkaline balanced diet.

Hydration/dehydration: Drink plenty of water, but not too much. Low or high levels of water/fluid affect mineral levels.

.

Salt/sodium: Salt can be a trigger, use low sodium foods with care, the salt in those foods is replaced with potassium for flavor so will increase potassium levels.

Body temperature: Use a thermometer. Fever can create symptoms. Heat and cold also causes symptoms.

Vitamins: Any vitamin imbalance can create symptoms.

Exercise/exertion: Too much exertion or exercise sets our symptoms into motion, it is important to know your own limits.

Blood pressure: Monitor with a blood pressure wrist cuff.  Blood pressure needs to be kept at normal levels. This can be done with diet and staying balanced.

Oxygen levels: Monitor with finger pulse oximeters, below 95% the cells begin to be starved causing damage. If blood pressure is up or down, oxygen may be needed to avoid damage. Low oxygen levels prevent the cells from working properly and it affects the brain, heart and energy levels.

Heartbeat: Monitor with finger pulse oximeters and blood pressure wrist cuff. If heart rate is too slow the heart has to work harder and the brain and other organs are not getting the oxygen they need and if the heart is beating too fast the organs and other tissue is being deprived of oxygen.

Carbohydrates: Too many carbohydrates in a meal affect HypoKPP, but HyperKPP needs more carbohydrates in the diet.

Sleep: A lack of sleep causes chemical imbalances in the body and affects insulin levels, among other issues.

Stress (good or bad): This causes adrenaline to rise, which lowers potassium levels and also affects insulin levels.

Drugs/medications/over-the-counter: Avoid at all cost. These will cause serious imbalances in many different ways, depending on their composition and our form of Periodic Paralysis and co-existing conditions.

If we can keep our bodies in balance, we can minimize our symptoms and improve our quality of life. It is a constant battle and not easy but the results are well worth it. We can be the best we can be, naturally, by following the above ideas. We equate it to constantly walking a tightrope.

This form helps to monitor the above issues in order to stay in balance.

Until later.....

Permanent Muscle Weakness in Periodic Paralysis...Continued

Hello All,

Yesterday, it came to my attention that some people are having trouble trying to share my blogs on Facebook. For some reason, these posts have been disappearing from their walls. I am sorry and disturbed that this is happening. I have no idea why or by whom they have been removed.

Please let me know if you have any more problems. I am writing these articles to get the word out about PP for all of us, for your families and friends to understand and maybe some medical professionals and doctors to read them and learn also.


Yesterday’s blog brought a few questions:

The first one is about Physical Therapy (PT). Some one asked, “Can PT help the permanent muscle weakness (PMW)?”  My first response was, ”No, PT typically makes it worse.”

The teacher in me made me realize that answer was not sufficient or totally correct. So, I searched through my data collection looking for an article I had saved about that topic.

 
I wrote another post:

”I should have said that for ‘most’ of us PT may not be a good idea. I know there are other members in our support group who do work out; weight-lift or exercise and I did during my earlier years. However, I have had to stop PT every time it was prescribed for me. The pain was excruciating and it caused more episodes and more weakness. There may, however, be things like warm water exercises, or massage and more that may be helpful. Each person is different and all you can do is talk to your knowledgeable medical professionals and try what you think may be helpful and work for you.

The following are a few articles, which may be helpful in making your own decision:

The first one is written by a physical therapist:

"In some neuromuscular diseases, such as the metabolic muscle disorders, strength building exercises such as weight training may lead to muscle deterioration. Muscle deterioration can also lead to kidney damage. Individuals with periodic paralysis may experience increased attacks of paralysis."

http://www.bellaonline.com/articles/art182120.asp


This one is about Periodic Paralysis, which is a mineral metabolic disorder. It is an important message about deterioration of muscle from weight training:

"In some neuromuscular diseases, such as the metabolic muscle disorders, strength building exercises such as weight training may lead to muscle deterioration. Muscle deterioration can also lead to kidney damage. Individuals with periodic paralysis may experience increased attacks of paralysis.

Individuals with any type of muscle disorder should avoid exercising to exhaustion. They should stop exercising right away and consult their physician if they experience muscle cramping or paralysis, or cola-colored urine."

http://www.bellaonline.com/articles/art182120.asp

The last article deals with potassium and exertion/exercise:

"Increased Need For Potassium”

Heavy labor, weightlifting, extended labor, excessive sweating, alcohol, with caffeine (diuretic) (e.g. coffee, tea, some sodas) increase the need for potassium. A drop in blood sugar strains adrenal glands and also causes potassium loss.

Many weight lifters buy protein powder to make protein shakes. All that protein is hard on the liver and kidneys. Your body can’t build an ounce of muscle without enough potassium."

http://actualcures.com/weight-loss-diet-important...

The second issue from yesterday’s blog about permanent muscle weakness is that I failed to mention that there is typically three forms in which Periodic Paralysis may manifest related to permanent muscle weakness. That is:

Clinical Diagnosis

“The two distinct forms of muscle involvement observed in hypokalemic periodic paralysis (HOKPP), paralytic episodes and fixed myopathy, may occur separately or together. The pure paralytic episodic form occurs most commonly; the combination of paralytic episodes and a slowly progressive myopathy is less common; the pure myopathic form without paralytic episodes is rare:

• Paralytic episodes. The primary symptom consists of attacks of reversible flaccid paralysis with a concomitant hypokalemia that usually leads to paraparesis or tetraparesis but spares the respiratory muscles.
• Myopathic form. The myopathic form results in slowly progressive, fixed muscle weakness that begins as exercise intolerance predominantly of the lower limbs; it usually does not lead to severe disability. This fixed weakness must be distinguished from the reversible weakness that exists between attacks in some affected individuals.”

”The myopathic form develops in approximately 25% of affected individuals and results in a progressive fixed muscle weakness that begins at variable ages as exercise intolerance predominantly in the lower limbs. It occurs independent of paralytic symptoms and may be the sole manifestation of HOKPP.”

http://www.ncbi.nlm.nih.gov/books/NBK1338/

The above article does not mention the third type which is combination of the two; episodes of intermittent muscle weakness or partial or full body paralysis and gradual permanent muscle weakness.

My suspicion is that paralysis may be going on in sleep unaware to the person in the myopathic form.

Until later…

Permanent Muscle Weakness in Periodic Paralysis

Hello All,

We have had quite an increase in people viewing our blog. Thank you all so much for your participation. Please feel free to make comments and ask questions. We are always working on ideas for blogs so please pass along any suggestions for subjects you would like to read about. Today's blog was suggested by a member of our support group. It took several days of research to put it together. We hope it will be informative and helpful to you.

Permanent Muscle Weakness in Periodic Paralysis

 

Many members of our Periodic Paralysis Network Support and Education Group discuss muscle weakness. It is very common to wake up in the morning unable to move, get out of bed or walk. As time passes, individuals are able to finally to move, drag themselves out of bed and walk with assistance, though they are very weak. As the day progresses, they either get a little better or remain in the weakened state. What most of them do not know or understand is, that they are in paralysis much of the night, most every night. Damage to the muscles is the result of this, thus creating gradual muscle weakness and over time Permanent Muscle Weakness (PMW) results.

I did some research on PMW related to Periodic Paralysis (PP) and discovered some interesting information. The damage done to the muscles is written about much less often than the episodes of partial or full paralysis in articles or studies about Periodic Paralysis. The information available, however, indicates that PMW is seen in all forms of PP, Hypokalemic Periodic Paralysis, Hyperkalemic Periodic Paralysis or Andersen-Tawil Syndrome. Progressive muscle damage is also seen in all forms and it is irreparable. It cannot be reversed http://mda.org/disease/inherited-and-endocrine-myopathies/periodic-paralysesirreperable.

In one study it was determined that some individuals who were not helped by or who were worsened by acetazolamide (the main drug used), responded well to dichlorophenamide another drug. 

http://www.ncbi.nlm.nih.gov/pubmed/6855804  

Acetazolamide is a drug that must be used with extreme caution. It can cause kidney stones, metabolic acidosis, low potassium levels, affects growth in children and has caused death.  The most important issue is that it can actually cause paralysis thus creating more permanent muscle weakness!
http://www.webmd.com/drugs/drug-6755-acetazolamide+oral.aspx?drugid=6755&drugname=acetazolamide+oral&pagenumber=6http://link.springer.com/article/10.1007%2FBF00311396#page-1

In another study it was concluded that Hypokalemic Periodic Paralysis is a myopathy (muscle disease, however, it is actually a mineral metabolic disorder, which affects the muscles) with permanent muscle weakness of late onset in all the patients. This study though older and only a few participants were used, indicated that most everyone with any form of Periodic Paralysis would develop permanent muscle weakness as they age.

http://www.ncbi.nlm.nih.gov/pubmed/2276049http://www.ncbi.nlm.nih.gov/pubmed/2276049

In the last study, there is correlation between PMW and abnormal muscle biopsies. This means that a muscle biopsy, completed for people with PP, may show abnormalities and damage in the muscle fibers namely changes in size and shape, vacuoles, splitting of the fibers, tubular aggreagates, increased glycogen (fat).

http://link.springer.com/article/10.1007%2FBF00311396#page-1

This overlooked subject is extremely important and needs to be addressed. Each paralytic episode causes more muscle damage so it is necessary to do everything possible to stop the episodes.

We know that avoiding the things that cause the episodes is the most important issue. So it is important to know what a person’s triggers are and avoid them. Other treatment may include following a pH balanced diet, using supplements, avoiding exerting oneself and more. Some individuals may use drugs, but they must be used with caution and as discussed earlier.

So the conclusions seem to be that all individuals with Periodic Paralysis will have Permanent Muscle Weakness. We can also conclude that acetazolamide (diamox) seems to make it worse...thus this could be a problem for younger people with PP who take acetazolamide and begin to develop PMW (as well as kidney stones and metabolic acidosis and growth issues with children), but other medications, namely dichlorophenamide, may help. There is a correlation between your PMW and abnormalities in your muscle (muscle fibers). In other words, it is likely that if you had a biopsy, abnormalities will show up.

That being said, the only drug known to possibly improve the symptoms of PP including possibly lessening the chances of PMW, dichlorophenamide which was widely accessible previously, is not registered anymore and only available for trials bring run by researchers.

http://onlinelibrary.wiley.com/doi/10.1002/mus.880060303/abstract

The following is the results of a study from 2008:

“Although the carbonic anhydrase inhibitors have been used in the treatment of the primary periodic paralyses (PPs), their efficacy has not been demonstrated in double-blind, placebo-controlled trials. Therefore, we tested the efficacy of dichlorphenamide (DCP; Daranide), a potent carbonic anhydrase inhibitor, in the treatment of episodic weakness in the primary PPs. We performed two multicenter, randomized, double-blind, placebo-controlled crossover trials, one involving 42 subjects with hypokalemic periodic paralysis (HypoPP) and the other involving 31 subjects with potassium-sensitive periodic paralysis (PSPP). In each trial, two 8-week treatment periods were separated by an active washout period of at least 9 weeks. The primary outcome variable in the HypoPP trial was the occurrence of an intolerable increase in attack severity or frequency (end point). The primary outcome variable in the PSPP trial was the number of attacks per week. In the HypoPP trial, there were 13 subjects who exhibited a preference (in terms of the end point) for either DCP or placebo, and 11 of these preferred DCP. In the PSPP trial, DCP significantly reduced attack rates relative to placebo. DCP also significantly reduced attack rates relative to placebo in the HypoPP subjects. We conclude that DCP is effective in the prevention of episodic weakness in both HypoPP and PSPP. 2008”

https://www.medify.com/insights/article/10632100/randomized-trials-of-dichlorphenamide-in-the-periodic-paralyses-working-group-on-periodic-paralysis


It seems odd to me that a drug, which might actually help someone who has Periodic Paralysis is now unavailable to them or is only available for a few people taking part in PP studies and research (as soon as the study is completed the drug is stopped) or those who have enough money to get it through questionable channels. So for some people with PP they are in a "Catch 22" with acetazolamide. They can take acetazolamide and increase the chances of developing PMW or of an increase in the progression of muscle weakness, kidney stones, metabolic acidosis and more as well as growth issues for children. However, they cannot get or take a drug, dichlorophenamide, which may actually help them.

I personally prefer and must use natural methods. I am unable to tolerate most drugs, including acetazolamide.

The following links provide more information for those interested in researching dichlorophenamide

http://onlinelibrary.wiley.com/doi/10.1002/1531-8249%28200001%2947:1%3C46::AID-ANA9%3E3.0.CO;2-H/abstract;jsessionid=1D6E6DF386359CD033D6FF4C39336422.f04t02

http://www.drugs.com/mtm/dichlorphenamide.html

http://www.drugbank.ca/drugs/DB01144

http://quest.mda.org/news/dichlorphenamide-being-tested-periodic-paralysis

tests now going on

http://www.webmd.com/drugs/drug-8770-Dichlorphenamide+Oral.aspx?drugid=8770&drugname=Dichlorphenamide+Oral&pagenumber=6

rare side effects metabolic acidosis

http://medical-dictionary.thefreedictionary.com/dichlorphenamide

prohibits use

http://www.gpo.gov/fdsys/pkg/FR-2007-08-06/pdf/E7-15230.pdf

not withdrawn for safety reasons

https://www.google.com/search?q=dichlorophenamide&ie=utf-8&oe=utf-8&aq=t&rls=org.mozilla:en-US:official&client=firefox-a#q=dichlorphenamide+why+discontinued+in+the+USA%3F&rls=org.mozilla:en-US:official

https://www.medify.com/insights/article/10632100/randomized-trials-of-dichlorphenamide-in-the-periodic-paralyses-working-group-on-periodic-paralysis

http://www.scribd.com/doc/2768678/Notice-Human-drugsDrug-products-withdrawn-from-sale-for-reasons-other-than-safety-or-effectiveness8212-Daranide-dichlorphenamide-tablets-50-m Wall Street Journal

http://medlibrary.org/lib/rx/meds/daranide/page/2/

http://www.onlinecanadianpharmacy.com/section/productgroup.aspx?DrugName=Daranide&Generic=no buy in Cananda

http://www.drugs.com/answers/where-can-i-buy-daranide-408510.html

https://www.federalregister.gov/articles/2007/08/06/E7-15230/determination-that-daranide-dichlorphenamide-tablets-50-milligrams-were-not-withdrawn-from-sale-for

http://www.muscular-dystrophy.org/research/clinical_trials/244/periodic%252Bparalysis (the studies)

 Until later...

Why We Should NOT TAKE DRUGS: Idiosyncratic and Paradoxical Reactions To Drugs

Good Morning All!

Here on the Olympic Peninsula, we woke up to a winter wonderland!! It does not happen here very often, so it is a treat, especially a few days before Christmas. I think we can be assured of a White Christmas now!!! It is still snowing as I write, so I do not know how much we will get but we have a good two inches right now.


Yesterday, after my really good day on Wednesday, I had a bad afternoon and evening. Calvin made us a pot of beef vegetable soup!! Over the past five years, he has learned to cook as I have given him directions from my recliner. He has now graduated to creating his own dishes and even bakes cookies for us (sugar-free and gluten-free).


He keeps busy during the winter months with his own writing (about ready to publish his new book) and working on the finish work of our renovated home. He has done a beautiful job. We are very comfortable.


Today I will write about the strange effects resulting from medications to people with various forms of Periodic Paralysis.

 

Idiosyncratic Reaction To Drugs

 

 

 

The two most common issues with drugs or pharmaceuticals for individuals with Periodic Paralysis (and others) are a paradoxical reaction and an idiosyncratic reaction. These are both serious effects. If one has a paradoxical reaction to a medication it means that the opposite of what is supposed to happen will occur. For instance, if someone takes a sleeping pill and then stays awake all night, it is known as a paradoxical effect. This can be just an inconvenience or very serious depending on the medical issue and the reaction. If someone who is already experiencing high blood pressure, is prescribed a drug to lower blood pressure, but it increases the blood pressure, this can cause a stroke, other serious effects or even death.


If an individual develops tremors, metabolic acidosis and paralysis from taking an antibiotic; these would be considered as idiosyncratic effects; reactions or side effects, which would be totally unpredicted, unexpected and never seen before. These effects would not be listed as possible rare side effects. This is a serious problem because these idiosyncratic effects, also known as “type B reaction” can be harmful by causing damage or even death. The amount ingested has no bearing on it. The reactions may occur from the smallest amount possible after one dose and the reactions may occur right away or after a little passage of time, even after a few weeks or chronically after a period of time.


It is believed that the type B reaction is an immune-mediated toxicity. This means an idiosyncratic reaction is an immune system response, which causes the drug to be toxic or poisonous to the individual who ingested it, inhaled it or absorbed it through the skin and causes cellular damage. Experience and research indicate that very few treatments exist. One must stop taking the drug, repair the damage if possible and provide life support if needed.


It should be noted that there may be no reaction the first time but may happen after the second time it is prescribed or at any time, even if taken for many years with no problems. The unexpected reaction may also occur after discontinuing the drug many weeks previously. The reaction or side effect may not be the same each time the drug is introduced.


Research indicates idiosyncratic effects are related to metabolic, mitochondrial and inflammatory dysfunction rather than the immune system and that there might be a genetic link in many cases.


Why is this an issue for individuals with Periodic Paralysis? Periodic Paralysis is a mineral metabolic disorder. Paradoxical reactions and idiosyncratic reactions are related to metabolic dysfunction. Strange, odd and out-of-the-ordinary side effects and drugs creating the opposite effects are common characteristics of individuals with all forms of Periodic Paralysis, especially the form known as Andersen-Tawil Syndrome.


Many individuals with Periodic Paralysis have serious side effects from the drugs they are prescribed. Without knowing this and without a diagnosis, doctors will prescribe drugs to treat symptoms that appear to be neurological or for other issues. The patient will use the pharmaceuticals and develop new symptoms, over time. These symptoms begin to look like something else for which new medications are prescribed, and the cycle continues. Or if there is no diagnosis and a person is suspected of having a conversion disorder, once everything else is ruled out, psychotropic medications may be prescribed. These medications can become out of control and it is not uncommon to be on 5 or 10 or more drugs at one time. They are toxic to the body and are causing damage. Most of them are also triggers for the periods of paralysis, and each paralytic episode causes more damage to the body.

 

I am a victim of this cycle. I was misdiagnosed several times, given medications for which created new symptoms for which more drugs were prescribed. I was experiencing ataxia, dyskenesia, tremors, heart issues, blood pressure issues, anxiety, pain, passing out, muscle weakness and more and of course episodes of partial and full-body paralysis. At one point I was on 15 different drugs, of which I actually needed not one of them.


I finally had a huge seizure or stroke-like episode. I ended up in the hospital. I was given more medications causing hallucinations, among other things, and which left me in and out of consciousness. I was permanently left with muscle weakness, breathing issues and exercise intolerance. I could not take care of my own personal needs like toileting, bathing, dressing or eating. It took many months to be able to have strength enough to stand by myself and I had to learn to walk again with the aid of a walker and physical therapy. I have never recovered to the point I was before that episode. I now use a power wheelchair for any more than a few steps, am on oxygen therapy 24 hours a day, must refrain from any exercise or exertion, am stuck in a recliner all day and much more.


With a proper diagnosis and without all of the unnecessary drugs, which caused paradoxical and idiosyncratic reactions, I would be much better in all ways. The following is a partial list of some of the drugs I took and some of the obvious effects of each.

Acetazolamide/Diamox/Keveyis: Metabolic acidosis, unconsciousness, paralysis, and more
Metformin: Tremors and ataxia
Albuterol: Tremor, ataxia and paralysis episode
Diltiazem: Ataxia
Seroquel: Seizures, paralysis episodes
Flouxitine: Seizures, paralysis episodes
Cipro: Partial paralysis of legs and painful tight calves
Macrodantin: Partial paralysis of legs and painful tight calves
Septra: Ataxia, paralysis, metabolic acidosis
Ranitidine: Ataxia
Detrol LA: Ataxia
Reglan: Dyskenesia
Forteo: Ataxia
Atenolol: Low blood pressure, passing out
Psychotropic medications: Seizures
Narcotics: Unconsciousness, nausea due to
Pain Killers: Low blood pressure, passing out

(This does not include all of the drugs that cause long QT heartbeat
and any or all of them trigger episodes of full-body paralysis.)
 In conclusion, a paradoxical or idiosyncratic reaction is an immune system response to drugs due to genetic predisposition and metabolic dysfunction in individuals with Periodic Paralysis, a mineral metabolic disorder. This includes the medications specifically prescribed to treat Periodic Paralysis ( Acetazolamide/Diamox/Keveyis).
Precautions must be taken to avoid these effects. Stop the drugs (with the help of a doctor, very carefully) or do not start them at all. There are natural ways to control many of the symptoms of Periodic Paralysis, namely avoiding triggers and other common sense and natural methods.

http://en.wikipedia.org/wiki/Idiosyncratic_drug_reaction
http://en.wikipedia.org/wiki/Toxicology
http://phm.utoronto.ca/~uetrecht/Jack_lab/Welcome.html
http://www.ncbi.nlm.nih.gov/pubmed/20020273
http://www.aasld.org/dili/Documents/2012/2A-4_UetrechtN.pdf

Added 9-24-2020:
What are the Periodic Paralysis Triggers? AVOID AT ALL COST

https://periodicparalysisnetworkinc.com/wp-content/uploads/2020/08/What-Are-The-Periodic-Paralysis-Triggers-AVOID-AT-ALL-COST.pdf

Until later…

What is Andersen-Tawil Syndrome?

Hello All,

I have been diagnosed with the rarest form of Periodic Paralysis called  Andersen-Tawil Syndrome. I was first diagnosed based on my symptoms and characteristics. This is called a "clinical diagnosis."  I now have a genetic diagnosis (KCNJ5). Andersen-Tawil Syndrome (ATS), given a name in 1971 was the first ion channelopathy discovered. It is a very rare form of Periodic Paralysis, a mineral metabolic disorder. ATS is an autosomal dominant disorder, which means it is usually passed by one parent to the child. If someone is a carrier his or her children have a 50% chance of being born with it or as a carrier. ATS accounts for approximately 10% of all periodic paralysis cases. It is characterized by three particular components: periods of paralysis from high, low or normal potassium levels, distinctive craniofacial and skeletal characteristics and long QT interval heartbeat with a predisposition toward life-threatening ventricular arrhythmia. However, affected individuals may express only one or two of the three components and they may be very subtle.

Some of these components and symptoms were found in my mother, possibly through her father, and many of her descendants; specifically, two of her three sons and me, her only daughter. Many of her grandchildren and great-grandchildren also have varying degrees of the characteristics and symptoms.

Some of the manifestations of this condition are serious and life-threatening. Each family member of someone diagnosed with ATS should be well educated about this syndrome, in particular, regarding the episodes of paralysis (full body or partial), the heart complications, the strange effects of most medications and the serious complications of anesthesia.

An individual is born with Andersen-Tawil Syndrome and symptoms may begin in early childhood or not until later in life. Members of the same family can have varying degrees of it or some of the characteristics without actually having it.

During an attack, brought on by many triggers to include: carbohydrates, sugar, medications, exercise, heat, cold, periods of sitting too long, stress (good or bad), etc; potassium leaves the organs it belongs in and goes into the muscles where it does not belong and paralyzes the muscles (totally or partially). The depletion of the potassium in the other organs can cause symptoms such as irregular heartbeat, weakness, fainting, numbness, tingling, breathing issues, choking/swallowing problems, exercise intolerance, etc. After many years the body can become permanently weakened.

It is important to get a diagnosis for proper treatment to avoid the permanent disabilities. It is also important so one can avoid the triggers and hopefully control the episodes as much as possible. Most over-the-counter medications, as well as those prescribed by physicians, such as antibiotics and painkillers, can cause serious consequences.  Many medications can cause an opposite effect such as sleeping aids can keep you awake and agitated.

Executive Functioning (EF) Disorder can accompany ATS. There are three primary layers of executive functions: self-regulation, organization and high order reasoning skills. It is associated with many disabilities: Attention Deficit Hyperactivity Disorder (AD/HD), Learning Disabilities (LD), Tourette Syndrome (TS), Obsessive-Compulsive Disorder (OCD), Autism, Depression, Bipolar, etc. It is important to have these conditions diagnosed as early as possible for proper treatment, training, and education.

To better explain and describe ATS I am including the following information I have collected over my years of research for the "Characteristics of Andersen-Tawil Syndrome." There are more than the 5 or 6 we typically read. Several articles are sighted for this section due to the differences in symptoms in some of them. Some personal information has been added for clarity.

Symptoms & Characteristics

Several articles are sighted in the following section due to the differences in symptoms in some of them. Some personal information has been added for clarity.

Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome, is a cardiac channelopathy, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), or cardiac arrest.

 

At this time, there are two recognized types of Andersen-Tawil syndrome, Type 1 and Type 2, which are distinguished only by their genetic causes. Type 1 has a known genetic mutation (either one of two forms KCNJ2 and KCNJ5). The other, Type 2, though the symptoms and characteristics are exactly the same, has no known genetic mutation, which has been discovered yet.  

Physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, and limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal curvature of the spine (scoliosis).

 

Symptoms

·Widely spaced eyes
· Short stature
· Scoliosis
· Webbed toes or fingers
· Unusual short fingers
· Low set ears
· Broad forehead
· Small jaw
· Protruding jaw
· Broad nasal root
http://en.wikipedia.org/wiki/Andersen–Tawil_syndrome

Disease characteristics.

Andersen-Tawil syndrome (referred to as ATS in this entry) is characterized by a triad of episodic flaccid muscle weakness (i.e., periodic paralysis), ventricular arrhythmias and prolonged QT interval, and anomalies such as low-set ears, ocular hypertelorism, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.
www.ncbi.nlm.nih.gov/pubmed/20301441

Executive Functioning (EF) Disorder

Relates to difficulty in self regulation, organizing, integration, or high order reasoning skills.

"Executive Function disorder, is a disability of not being able to show what you know"

Executive Function disorder is associated with many disabilities: Attention Deficit Hyperactivity Disorder (AD/HD), Learning Disabilities (LD), Tourette Syndrome (TS) , Obsessive Compulsive Disorder (OCD), Autism, Depression, Bipolar, etc.

Most people with AD/HD also have Executive Function Disorder, but someone can have Executive Function Disorder without being diagnosed with a disability. Executive Function program and services would be needed if the student progress in the general growth in the acquisition of knowledge and skills are being negatively impacted.

Eight Pillars of Executive Control

 by Dr. Adam J. Cox, Ph.D., January 2009,

Minuteman Technical High School SEPAC presentation

1. Initiating Action being able to organize one’s thoughts well enough to get started on a particular task without having to be asked multiple times.
2. Flexible Thinking involves learning to adapt by shifting one’s focus and pace as various situations unfold. Imagine how difficult it would be to drive your car if it wouldn’t turn and only went one speed. (About as difficult as parenting a child with only one speed and one direction!)
3. Sustaining Attention focusing long enough and accurately enough to learn important information. By extension, attention also involves the ability to block distraction. A well-orchestrated “executive brain” knows its priorities.
4. Organization is about managing space. It’s also about taking the emotional impact of chaos seriously. Why? Because chronic disorganization undermines forward momentum – a sense of accomplishment.
5. Planning is about managing time, and is more important than any other executive pillar when it comes to finishing things on schedule. A planning mind uses time as a tool to clarify priorities and enhance productivity; indispensable skills to 21st century success, beginning with school and, eventually, careers.
6. Working Memory is the ability to retain information long enough for it to be stored in long-term memory. Our society has a word for this process – learning. Of all the executive controls, working memory is the most pervasive, contributing to the smooth operation of every pillar. (Working memory is the rocket fuel of the modern mind.)
7. Self-Awareness pertains to having both sufficient self-knowledge and an ability to perceive how others see you. This information is essential to making purposeful choices about how to act in situations where one wants to avoid unintended consequences that lead to isolation or ostracism.
8. Regulating Emotions means expressing one’s feelings in proportion to the events that elicited them. When a child under or over-reacts, she is out-of-sync with people or particular events. Socially, people tend to ignore a silent recluse, and run away from an “erupting volcano.”
From his book: No Mind Left Behind: Understanding and Fostering Executive Control- The Eight Essential Brain Skills every Child Needs to Thrive, by Adam J. Cox, Ph.D. Psychologist
Executive Function Skills, by Sarah Ward, MS, CCC-SLP, February, 2007 SPED PAC Presentation

3 Primary Layers of Executive Functions:

1.      Self-Regulation

a.      Awareness

b.      Motivation

c.       Initiation

d.      Emotional Control

2.      Self-awareness

a.     Self monitor the ability to inhibit or delay responding, which permits impulse control resistance to distraction and delay of gratification)

b.      Metacognition (Learning how to learn)

3.      Organization and Integration

a.      Integrate details into a bigger picture

b.     Organize and store information so it can be traced back and retrieved over time (Episodic Memory), (used for planning for the future)

4.      Higher Order Reasoning Skills

a.     Analyze

b.     Draw a conclusion

c.      Solve a problem

d.     Predict an outcome

e.     Reason

f.        Evaluate
http://concordspedpac.org/ExecutiveFunctions.html

Symptoms of Andersen-Tawil Syndrome

 

· Ventricular arrhythmia
· Abnormal heart rhythm
· Long QT syndrome increased time needed for heart to recharge after each heart beat
· Irregular heartbeat
· Discomfort
· Fainting caused by irregular heart beat
· Small lower jaw
· Dental abnormalities
· Low-set ears
· Widely spaced eyes
· Abnormal curving of fingers
· Abnormal curving of toes
· Short stature
· Abnormal curvature of the spine
http://www.wrongdiagnosis.com/a/andersen_tawil_syndrome/symptoms.htm

Distinctive physical features recognized initially included low-set ears, ocular hypertelorism, small mandible, fifth-digit clinodactyly, syndactyly, short stature, broad nasal root, and scoliosis [Andersen et al 1971, Tristani-Firouzi et al 2002, Donaldson et al 2003]. Dental enamel discoloration was noted in two kindreds with the Gly300Asp and Arg218Trp mutations [Davies et al 2005].
Detailed, prospectively collected data in ten individuals with confirmed KCNJ2 mutations have expanded the phenotype to include a characteristic facies and dental and skeletal anomalies [Yoon et al 2006a].
· Characteristic facies include broad forehead, short palpebral fissures, full nasal bridge with bulbous tip, hypoplasia of maxilla and mandible, thin upper lip, and a triangular shape.
· Dental findings include (among others) persistent primary dentition, multiple missing teeth (oligodontia), and dental crowding.
· Skeletal findings include mild syndactyly of toes 2 and 3 as well as fifth-digit clinodactyly.
· Novel findings include small hands and feet (<10th centile for age) and joint laxity.
Isolated reports of renal anomalies include unilateral hypoplastic kidney [Andelfinger et al 2002] and renal tubular defect [Davies et al 2005].
http://www.ncbi.nlm.nih.gov/books/NBK1264/

Dysmorphic Features:

May be very subtle, partial or seen in 'unaffected' family members
Skeletal:
· short stature (often);
· scoliosis

Hands/Feet:
· tapering fingers,
· clinodactyly (inward curvature/ 5th fingers);
· brachydactyly (unusually short fingers);
· syndactyly (webbing between fingers or between 2nd and 3rd toes)

 Facial:
· hypertelorism (widely spaced eyes);
· mandibular hypoplasia (small jaw);
· low-set ears;
· broad forehead;
· malar hypoplasia; (underdevelopment of cheekbones)
· broad nasal root;
· micrognathia (short jaw);
· prognathism (protruding jaw);
· ptosis; (an abnormally low position (drooping) of the upper eyelid)
· cleft palate, high arched palate

Definition of Terms for Symptoms:

· characteristic facies (characteristic appearance of the face in association with a disease or abnormality)
· brachydactyly (unusually short fingers)
· brachydactyly type D (clubbed thumbs) (characterized by a slightly shorter thumb that is round in section and larger at the end)
· clinodactyly (inward curvature/ 5th fingers);
· syndactyly (webbing between fingers or between 2nd and 3rd toes)
· small mandible (lower jaw in which the lower teeth reside and chin)
· hypoplasia of maxilla (small upper jaw)
· short palpebral fissures (short opening for the eyes between the eyelids)
· persistent primary dentition (still have some baby teeth)
· ocular hypertelorism (widely spaced eyes);
· scoliosis (curved spine)
· microcephaly (abnormal smallness of the head)
· delayed bone age (slowed degree of maturation of child's bones)
· joint laxity (looseness of the muscles and soft tissue surrounding a joint)
· broad nasal root (wide space between the inner corners of eyes)
· broad forehead (increased distance between the two sides of the forehead or top to bottom of forehead)
· malar hypoplasia (small cheekbones)
· micrognathia (short jaw);
· prognathism (protruding jaw)
· ptosis (an abnormally low position (drooping) of the upper eyelid)
· cleft palate (a congenital fissure in the roof of the mouth)
· high arched palate (roof of the mouth is high)

Facial Dysmorphology

Drawings are used to depict terminology and to illustrate certain aspects of facial variation.
http://www.peds.ufl.edu/divisions/genetics/teaching/facial_dysmorphology.htm

In most of the textbook or journal articles, Andersen-Tawil Syndrome is described as being so rare that only 100 cases have been diagnosed worldwide. This is incorrect. In a part of France alone, over 90 cases exist. 100 cases of ATS is a gross underestimation. Far more cases exist in varying forms.

 

Until later...