A Rare Neuromuscular Condition: Myasthenia Gravis
Updated: Mar 25
What Is Myasthenia Gravis?
Myasthenia Gravis (MG) is a rare neuromuscular disorder that also means, “Grave Muscle Weakness” in latin.
This chronic condition effects the voluntary muscle groups in a person’s body that ultimately results in muscle weakness.
Myasthenia is an anti-body mediated autoimmune response where the bodies antibodies inappropriately attack certain proteins in specific muscles.
Basically, the communication between the nerve and muscle is interrupted due to the body’s response.
Aside from the typical presentation of a drooping eyelid (Ptosis), other symptoms of MG are:
*Double Vision (Diplopia)
*Shortness of breath (due to diaphragm weakness) especially when lying flat on back
*Arm and Leg Weakness (usually proximal)
*Facial Muscle Weakness (this causes a mask-like expression)
-Difficulty Chewing
-Dysphonia; difficulty with speech (nasally or hoarse with low volume tendencies)
-Dysarthria; the inability to pronounce or articulate words
*Trouble Swallowing (Dysphagia)
*Neck Weakness (problems holding head up for long periods of time)
And like with most autoimmune conditions:
-Fatigue
-Anxiety/Depression
Something to understand with Myasthenia Gravis is that the more the muscle is used, the more fatigued the muscle becomes.
For example, the longer you chew on your favorite piece of steak, the more difficult it becomes to finish chewing.
There is usually no pain associated with the fatigued muscles.
The only remedy for this is to rest the muscle or stop the condition from attacking the neuromuscular junction, so the muscles may contract/relax appropriately.
For more information that is very helpful if you are newly diagnosed or need more detailed information, MG HOPE has created a patient packet!
The packet can be printed and is FULL of great resources with explanations.
Why Are The Symptoms Different?
It is still very important to see your healthcare provider with a list of ALL complaints that you may have.
Myasthenia is referred to as the snowflake disease because the presentation is unique in EVERY person.
This obviously makes it more challenging to diagnose, but also warrants an individual conversation with your medical professional or health care team.
Another consideration if you have been newly diagnosed or are undergoing testing for this condition, is to look at the common conditions that come about along side the diagnosis of Myasthenia Gravis.
As with most autoimmune disorders the symptoms of this condition present in a specific way … most of the time.
The droopy eyelid(s)
is a pretty significant warning sign that MG could be the cause of your issues.
But what happens when you have difficulty swallowing first?
Or carrying in groceries is difficult?
Testing for MG is challenging and a reason that several MG patients have awaited a diagnosis for YEARS.
It is sometimes difficult for medical professionals to know which test to preform.
I have met several professionals who haven't heard of the condition, so how would they know the most updated tests?
TYPES OF TESTING FOR MYASTHENIA GRAVIS:
*Anti-body Labs - this is bloodwork that tests for specific antibodies attacking the neuromuscular junction (where the communication is broken between muscle and nerve).
The bloodwork would show higher than normal values indicating that there are more present that the body would normally have.
Unfortunately, this set of labs requires speciality testing for some of the anti-bodies, and is not always 100 percent accurate.
The different blood tests are labeled per their anti-body or specific protein (ACHR, MUSK, LRP4, etc).
*SFEMG - An EMG (electromyography) - is a test used measuring and recording electrical activity in the skeletal muscle being tested.
The SF (single fiber) is a more sensitive test usually used to detect Myasthenia via the electrical abnormalities. This is not your typical EMG.
*RNS (Repetitive Nerve Stimulation) - The RNS is similar to the SFEMG, however, the RNS is used for neuromuscular junction disorders specifically.
This Electrodiagnostic test measures the decrement of electrical activity and shows the decrease in conditions such as Myasthenia Gravis.
*CT (cat scan) or MRI (Magnetic Resonance Imaging) - The CT is used to detect a tumor that is located on the thymus gland, if the thymus gland is present, or if it is enlarged.
This is not a fool proof test as there are reports of nothing showing on the scans at all even when it is present… personally, I am proof of this.
These scans may also be used to rule out other conditions that have similar symptoms as MG.
*Tensilon Test - This test was a standard test used in the past for diagnosing Myasthenia Gravis.
This test takes place in a hospital setting and a drug is administered via IV to the person who is symptomatic.
The test should prompt immediate relief of symptoms with improved muscle function, but would wear off quickly.
This test had its risks and is not used nearly as much as before with newer testing strategies and research becoming available.
*Clinical Assessment - Although it is often underrated and not considered a standard test, there should be consideration made to the specialist viewing your active complaints.
Sometimes it may be helpful for the specialist to measure a reflex, test muscle strength, or even evaluate for double vision.
If this does not confirm MG, it is STILL an important factor in testing.
Although I do not believe it is standard testing, I did have a pulmonology test called the MIP/MEP done during my PFTs (pulmonary function test) and this showed the diaphragm involvement versus the lung.
This can show when there is neuromuscular involvement and can be a huge clue.
Do Other Autoimmune Diseases Co-Exist With Myasthenia Gravis?
It is common knowledge that when you have one autoimmune disease, you are likely to have another.
Common Examples Of Autoimmune Disorders That Co-exist With Myasthenia Gravis:
Thyroid Disease
Dysautonomia (this is still heavily debated)
B12 deficiency with possible Pernicious Anemia
Lupus SLE
Rheumatoid Arthritis
And other autoimmune conditions…
The studies have been limited due to the rare occurrence of Myasthenia Gravis, and the difficulty upon becoming diagnosed.
However, these are some of the most common that have been reported to the NORD, and that I have been told others experience in support groups.
Is Myasthenia Dangerous?
With a name that hardly anyone can pronounce that stands for “Grave Muscle Weakness”, one can assume that complications that may arise from this disorder are definitely not “safe”.
One of the major concerns with a Myasthenia patient is respiratory failure.
There are several statistics on this, but unfortunately there is no true way to predict which person will experience this and to what extreme their difficulty breathing will result in.
For instance, it is more than common for me personally to spend a day having to sit down after around ten steps due to my shortness of breath.
This can be measured with my NIF meter or even on a specific test that is performed by a pulmonologist (the MIP/MEP I referred to earlier).
This does NOT mean that I am in respiratory failure.
For more information about some of the breathing tests involved in Myasthenia Gravis, CLICK HERE.
Respiratory failure has very specific definitions, and as a Myasthenia Gravis patient, it is important to understand the differences between a flare and a Myasthenic Crisis.
A Myasthenic Crisis is considered a medical emergency where assisted ventilation in an intensive care unit (ICU) is a common need.
(To learn more about a Myasthenia Crisis, please see MG HOPE FOUNDATION).
Aspiration can occur due to the weakness in the muscles.
There are different forms of aspiration but the risk factor remains the same.
When an unwanted substance enters the lungs, this can lead to detrimental unwanted effects that require emergency care.
Infections are also a HIGH RISK for the MG patient.
With several medications causing a suppressed immune system, in addition to an already malfunctioning immune system, an infection can signal a response that the body has a more difficult time fighting off and can flare the symptoms of Myasthenia Gravis.
Treatments For Myasthenia Gravis:
The treatment protocol for Myasthenia Gravis varies and is decided on a person by person basis.
Seeking treatment from a skilled neuromuscular specialist that is familiar with Myasthenia Gravis is what I have found to be the most beneficial approach.
Some of the most common treatments for Myasthenia Gravis are:
Prednisone
Mestinon (pyridostigmine)
Immunosuppressants (Cellcept, Imuran, etc)
Soliris (eculizumab)
Plasmapheresis
IVIG
Since each person with MG presents with different symptoms and severity levels, the treatments should be tailored to fit the individual, and serve as a guide of what may work for you.
I personally chose to have a thymectomy as a part of my treatment plan.
To see this surgery with pictures of the thymus, see this post.
There are important limitations that someone might have (such as a coexisting disease) that prevents some of these treatments from being utilized, so MAKE SURE you are working closely with a neuromuscular specialist that you trust to walk through this process with you!
Conclusion:
It is never easy to provide a summary for a chronic illness. This is an attempt at doing just that and I hope you find it helpful.
Sometimes knowing what to expect can lessen the fear or reassure us that what is happening is actually a part of the disease process.
If you are experiencing signs or symptoms or are just looking for your diagnosis, make sure that you don’t count this out because of one test or an uninformed medical professional’s opinion.
A lot of providers are unfamiliar with even the bloodwork that is involved in this chronic illness due to its rarity.
You wouldn’t go to the foot doctor for stomach pains, ya know?
I harp on this because out of my testing, my bloodwork came back negative for over a decade, my regular EMG’s were normal, my cat scan and MRI showed no thymus at all (spoiler:it was ten times the size with cysts), and my presentation was NOT the “norm”.
To see the surgery, click here
I feel like I should have seen a neuromuscular specialist much sooner than I did (but hey… you don’t know what you don’t know).
Also, months before my surgery I was told I did NOT HAVE MYASTHENIA GRAVIS by another neuromuscular specialist… this is another story for another day…
The doctor-patient relationship is so important when searching for a diagnosis in general and TRUST is a part of that foundation.
Don’t give up. Don’t stop searching. Don’t stop believing yourself.
You are worth an answer, a treatment, and you deserve a higher quality of life.
If you have any questions about this, please feel free to email me using the form or directly to my email and I will do the very best I can to respond in a timely manner.
Thank you for sharing your non-flaring time with me, as I know it is our most precious time.
I hope you have a better kind of day today
and as always, advocate for your wellness!
Disclaimer: TheCSpot does not offer medical advice and I no longer practice under a medical license. If you are experiencing a medical emergency, please seek the appropriate services. The terms and conditions can be found on TheCSpot.org.