Serene Forest

Tuesday, May 20, 2014

Paramyotonia Congenita: Another Form Of Periodic Paralysis

Paramyotonia Congenita: Another Form Of Periodic Paralysis

Paramyotonia Congenita is a form of Periodic Paralysis (PP). I have overlooked this form in my writings and in my book. I now want to describe and explain it, as it is an important form and can accompany all other forms of Periodic Paralysis; Hyperkalemic Periodic Paralysis, Hypokalemic Periodic Paralysis and Normokalemic Periodic Paralysis, but usually is seen with Hyperkalemic Periodic Paralysis. It may also occur or manifest as Hyperkalemic Periodic Paralysis and is believed to actually be a form of Hyperkalemic Periodic Paralysis.

Paramyotonia Congenita (PMC), also known as
Eulenburg Disease, is a rare, hereditary mineral metabolic disorder, which is also called a channelopathy and it affects the muscles used in movement. Caused by certain triggers, the sodium channels close much too slowly and the sodium, potassium, chloride and water continue to flow into the muscles. The skeletal muscles can become stiff, tight, tense or contracted and weak. PMC is caused by mutations in the SCN4A gene, a voltage-gated sodium channel. There is a 100% penetrance. This means if one has one of the mutations for it, they have a 100% chance of having it. In the same family, some members may have mild forms and others may have more extreme cases. It is actually considered to be a form of Hyperkalemic Periodic Paralysis, however, the symptoms can appear from shifting of potassium into low or high ranges or even if potassium shifts within normal levels.  Symptoms can begin shortly after birth or during childhood or at anytime in early adulthood.

Myotonia is the prolonged or lengthy contraction, tensing or lack of relaxation of a muscle or group of skeletal muscles, which is relieved by exercise. For those with
Paramyotonia Congenita, the contractions or tightness are not relieved by exercise. The symptoms or muscle tightness are brought on by triggers such as exercise or exertion, repeated movement and cold. It is also known that episodes are common in the early morning so sleeping in, in the morning, may cause episodes.  Hands, face and eyelids are often seen affected. It can be seen as simply a hand cramp while writing or the inability to let go of something being held in the hand like a door knob or the affects can be as significant as total body paralysis with contracted and tight muscles. The episodes can last for minutes, hours or days. There may also be intermittent flaccid paralysis as in the other types of Periodic Paralysis in which there is no muscle tone and the muscles are totally loose and slack. Because breathing muscles may be affected, shortness of breath may accompany episodes. Episodes may be mild or very severe and pain may be experienced even after the episode has ended. Individuals with PMC may appear to be stiff or look tense, even when not in an episode.

There is some difference of opinion as to whether PMC is a progressive condition, but more recent analysis and study of patients with it, indicates that some individuals may have some progressive and permanent muscle weakness.

Avoiding known triggers is the best treatment. Some individuals respond well to the common medications used for Periodic Paralysis, but the side effects can be worse than the symptoms. Because extremes of any type can cause episodes, moderation of everything and anything is important. A pH balanced diet can also be helpful because a high pH can cause symptoms and episodes to be eliminated or shortened. Also, due to the fact that episodes may be precipitated by low or high potassium, or even shifting within normal ranges, the levels of potassium must be evaluated individually for each person.

Individuals with  Paramyotonia Congenita/Hyperkalemic Periodic Paralysis are at great risk for Malingnant Hyperthermia, severe reactions to general anesthesia. Extreme care must be used if surgery is needed.
“General anaesthesia may trigger episodes of paralysis lasting for hours, in individuals with hyperkalemic periodic paralysis or paramyotonia congenita. For this reason, depolarizing muscle relaxants and acetylcholinesterase inhibitors are particularly unsuitable. In order to avoid complications the anaesthetist must be informed about the disorder in advance of surgery.”


 Until later…

Sunday, May 18, 2014

New Discoveries

Hello All,

After many months of being very sick with extreme weakness, brain fog and more paralytic attacks with  "ups" becoming shorter and my "downs" getting longer, I am finally doing much better. I have found a good balance that is working for me for the present time and I hope it continues.

I have attempted to put all of the little energy I have had into continuing to read and research regardless of how bad I am feeling and it has been very difficult. I did not want to give up. I have made a few important discoveries and continue to try to put it together. One of the important things I have wanted to share is that I finally had a breakthrough with my own genetic research, and my information will hopefully help all of you understand things that up until now, we have not been able to do.

I have been trying to understand how to decipher all of the information I have in my own DNA test results. I finally figured it out after a few months, and now I am painstakingly able to sift through the information and numbers and understand them somewhat.

I now know that positively I have Paramyotonia Congenita (PMC) a form of Periodic Paralysis. I have three mutations that are known to cause it.

Exon 5i c.703+55C>T - p.(=) SCN4A_00004
Exon 6 c.864C>T - p.(Asn288Asn) SCN4A_00009
Exon 8 c.1167T>C Tyr389Tyr r.(?) p.(=) SCN4A_00012

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 the 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.

PMC has now believed to be a form of Periodic Paralysis and is found to accompany Hypo PP, HyperPP and Normo PP, but usually hyperPP and normo PP.

Of interest in the PMC diagnosis is that people from Ravensburg, Germany have the highest concentration of it. My genealogy indicates I have one genealogy shows that one of my family lines is from Ravensburg, Germany!

I too have five mutations at KCNJ5. A new form of ATS has been discovered at that mutation. This is also called Long QT 13. I have 24 mutations at CACNA1C, which is related to mutations for Normokalemic Periodic Paralysis.

I discovered that for sure I have the mutation for Long QT 1:
KCNQ1: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 more than likely have the condition.

So it would seem I have PMC and Long QT 1 and the possibility of either HyperPP and/or Normo PP and/or ATS.

No wonder I have been so ill for so many years!!

If you want to find your genetic mutations I believe it is best to have “whole genome” testing done. It is unbiased and everything is revealed.

Until later…….

200 Members!!

Congratulations to us all at the PPN Support and Education Group!!! We now have over 200 members!!!!!!!!

Thank you all for your support!!!

Thursday, May 8, 2014

A Reply to a ‘Conversion Disorder’ Diagnosis by Guest Blogger Maureen

Hello All,

Maureen, one of our PPN Support Group members, has written another great article. This one is about 'conversion disorder' a term used very loosely and given to many of us by doctors who know nothing about Periodic Paralysis.

“I'm considering asking the next doctor who even hints or insinuates anything about 'conversion disorder' (or anything similar to this so-called diagnosis) how they are able to retain thoroughly knowing the over 7,000 KNOWN rare diseases, let alone the KNOWN mutations of just ionic channelopathy disorder mutations and all the complex potential mixes of these that are not even comprehended by the most advanced researchers who focus on trying to learn about these as their life work, and congratulate them on their understanding of not only knowing all of these and understanding them, but also inferring that they know and understand about the recently discovered 2nd language of the DNA that is a long way from being thoroughly and correctly deciphered by experts in this field that will affect medical knowledge and that they think themselves to be expert enough to discard all the information that is known and published about these (which we know isn't complete because the more that is learned, the more is realized how much ISN’T known) so that they can rule ALL these and more out and confidently think they are competently and accurately diagnosing a conversion disorder at the risk of harm coming to their patient who will not receive appropriate and possibly life saving and for sure life-altering treatment if they 'diagnose’ and 'label' the person as having a conversion disorder.”

Maureen....I wish you could hear my hands clapping in applause as I squeal in delight!! Well said as always!!!! Thanks so much!!!!

Tuesday, May 6, 2014

The Challenges of Periodic Paralysis by Guest Writer

Hello All,

Today I am posting something written by one of our members. I have been having a very difficult time with paralysis, weakness, “brain fog” and more the past week. I posted this information on our PPN Support Group board a few days ago. I also apologized for not responding to everyone’s posts like I usually do. Maureen wrote the following in response and I wanted to share it with everyone. It is important for others to know what it is like to live with Periodic Paralysis.

“With much admiration and appreciation for your perseverance and dedication…You have no need to apologize for anything. Wish that your conditions weren't robbing you of vitality. It is hard enough to deal with physical incapacitation and pain drain, let alone depletion from difficulty breathing and effort to sustain let alone push through despite how you are feeling. To have brain fog adds so much more depletion and challenge. It does get harder to get replenished. Because of our physical compromise that results in slowness, lack of movement, and even immobilization, we wouldn't think about correlating the effects of our condition to compare to that of an athlete. And to people who don't have conditions like PP (let alone having any additional disorders), it probably seems ludicrous to use an athlete as an allegory to being a person with PP.

But the extra exertion on our body to have to work in the condition of how we're compromised and with so many obstacles in order to just be managing to sustain basic function seems comparable to the effort that athletes exert to accomplish their goals. But the efforts they need to exert, to achieve their goals are self-imposed and voluntary choices. We aren't given the choice when our DNA dictates what our bodies are going to have to deal with in order to function to accomplish the goal of living let alone strive to accomplish projects and tasks that give meaning and purpose and fulfillment.

Living with a condition like PP requires more effort and endurance than someone would have to do who does not have this kind of physical compromise. Living with PP is like being an athlete, such as a marathon runner or a swimmer, because more exertion is required for an athlete to reach a higher level of performance and with PP our bodies have to perform at a higher level of exertion in order to perform in the 'race of life'. But unlike being in a marathon, there aren’t scheduled breaks to anticipate and provide opportunity to be refueled. No one would expect a car to keep going without fuel or with electrical failure or mechanical failure. And no one would expect a runner to run with mud closing in around their feet up their legs or run barefooted through obstacles like glass or sharp pebbles or unstable ground with rocks and holes that would hinder their performance or could even be dangerous or a swimmer to swim in mud, clay or quick sand.

With PP that is what our bodies are dealing with in terms of having extra obstacles and challenges to function. But unlike an athlete who can build up endurance through pushing themselves physically, we get more depleted when we push ourselves. We can't build up endurance when we put in more effort and we won't experience the reward of expanding greater physical capacity, greater well-being and health benefits that an athlete gets the benefits of through their exertion. So it seems like PP is more challenging, physically, than the challenges of being an athlete, with what appears to be less reward and benefits. So, maybe it is ludicrous to correlate having the challenges of PP with the challenges of being an athlete.”


Thank you so much for sharing with us. What a creative way to explain the challenges of living with Periodic Paralysis!!

Hugs, Susan