Ocular Myasthenia Gravis: As Seen Through My Mother’s Eyes

Nicole Levina – Maria Demos

By PresenterMedia.com

Explain in detail the ways in which this course has allowed you to better analyze the events and phenomena around you.

This course has allowed me to learn about the brain, and more specifically to understand its function in detail. I was further intrigued to uncover the various issues that arise as a result of strokes, lesions and other diseases such as Myasthenia Gravis. This new learning has allowed me to be more empathic towards those whose lives have changed as a result of damages to the brain. In some way, I no longer take the role of the brain and its various parts for granted.

I felt challenged at times with my lack of prior knowledge and exposure but I am proud of what I learned, read and saw.

In my efforts to further explore Myasthenia Gravis, specifically Ocular Myasthenia, I have interviewed my mother who has had the disease for over thirty years. Although she is currently in remission. I am in continued awe of her strength and determination. I am thankful for her and for this opportunity to continue learning.

Origins of Myasthenia Gravis

Myasthenia gravis, which is Latin and Greek in origin, literally means "grave muscle weakness”.

Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body.

Thomas Willis, a 17th Century Oxford physician was the first to recognize it is a disease.

The first modern description was made by Samuel Wilkes in 1877.

Indian Chief Opechankanough (died 1644), may represent the first recognized case of MG in the United States.

Occurs in all ethnic groups and in both genders. Usually females are diagnosed between the ages of 25-40, while it may occur in men over 60.

Origins of Myasthenia Gravis

Neonatal myasthenia , given to the child via mother’s immune antibodies, is temporary with symptoms disappearing within the first two to three months.

Myasthenia rarely occurs in juveniles.

It is not directly inherited or contagious

Children may show signs of congenital myasthenia or congenital myasthenic syndrome. These are not autoimmune disorders, but are caused by defective genes that produce abnormal proteins.

Myasthenia gravis can be classified according to which skeletal muscles are affected. Within a year of onset, approximately 85–90% of patients develop generalized myasthenia gravis, which is characterized by weakness in the trunk, arms, and legs.

About 10–15% of patients have weakness only in muscles that control eye movement. This type is called ocular myasthenia gravis.

•Clinical Overview

of M

yasthenia Gravis

Myasthenia is caused by a defect in the transmission of nerve impulses to muscles.

It occurs when normal communication between the nerve and muscle is interrupted at the neuromuscular junction.

Normally as impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine.

Acetylcholine travels from the neuromuscular junction and binds to acetylcholine receptors which are activated and generate a muscle contraction.

Antibodies block, alter, or destroy the receptors for acetylcholine at the neuromuscular junction, which prevents the muscle contraction from occurring.

These antibodies are produced by the body's own immune system As a result the immune system, whose role is to protect the body

attacks itself.

•Normal Receptors vs Myasthenia Gravis

The Role of the Thymus Gland in Myasthenia Gravis

Located beneath the breastbone may be responsible for sending incorrect instructions to developing immune cells.

This may lead to the production of the acetylcholine receptor antibodies, thereby setting the stage for the attack on neuromuscular transmission.

Some patients with MG may develop thymomas (benign tumors) which need to be removed.

In severe MG cases a complete thymectomy is recommended to alleviate symptoms.

Treatment of Myasthenia

Gravis

Immunosuppressants -Alter your immune system, such as azathioprine (Imuran), mycophenolate mofetil (CellCept), cyclosporine (Sandimmune, Neoral) or tacrolimus (Prograf).

Cholinesterase inhibitors-Such as pyridostigmine (Mestinon) enhance communication between nerves and muscles, may improve muscle contraction and muscle strength.

Corticosteroids-Such as prednisone inhibit the immune system, limiting antibody production.

Treatment of Myasthenia

Gravis

Plasmapheresis– Removes the antibodies in the blood that block the transmission of signals from nerve endings to the muscle receptor sites.

Intravenous immunoglobulin (IVIg)- Provides the body with normal antibodies

Robot-assisted thymectom or video assisted thymectomy- Removal of thymus may allow for symptoms and the taking of medications to stop

Muscle weakness worsens as the affected muscle(s) is used repeatedly

Ptosis – drooping of one or both eyelids

Diplopia – double vision

Issues with speaking

Difficulties swallowing, chewing and choking

Limited facial expressions – “lost your smile”

Trouble walking

Use of arms, or hands limited

Holding up head is a challenge

•Common Symptoms of Myasthenia Gravis

Fatigue

Illness

Extreme heat

Stress

Medications – beta blockers, quinine, quinidine gluconate, quinidine sulfate for example

Certain anesthetics and antibiotics

FACTORS THAT MAY ENHANCE SYMPTOMS OF MYASTHENIA GRAVIS

•Clinical Overview

of Ocular

Myasthenia G

ravis

Form of MG in which the muscles that move the eyes and control the eyelids are easily fatigued and weakened.

Patients have trouble with ptosis or diplopia, the symptoms can range from mild to severe, and can change from day to day.

Problems with double vision and drooping eyelids are often the first symptoms of MG.

One hypothesis is that patients may simply notice eye weakness more often than mild weakness in other muscle groups in the body.

Another hypothesis is that the eye and eyelid muscles are structurally different from muscles in the trunk and limbs, for example, they have fewer acetylcholine receptors.

The final hypothesis may be that eye muscles respond differently to immune attack.

How is Ocular Myasthenia

Gravis treated?Using eyelid tape, or eyelid crutches

Thymectomy is usually not considered for people with ocular MG, unless symptoms are severe or debiltating

Wearing dark glasses in bright light,which some pa- tients find helpful.

Applying a patch to one eye,

Agents that improve neuromuscular transmission, such as Mestinon®, may be helpful for ptosis, but not for diplopia.

• How old were you when your first symptoms appeared? I was thirty eight years old and had been perfectly healthy before them.

• What were your symptoms? I experienced double vision, both my eyelids drooped especially in bright sunlight or from lights in the house. I often choked on my own saliva, which was very frightening.

• What was your initial diagnosis? My initial diagnosis after my first experience was general Myasthenia Gravis. Later on it was narrowed down to Ocular Myasthenia Gravis.

• How did you feel after hearing this diagnosis? I felt scared, not being fully aware of what to expect. English is not my native language, and my doctor was Greek Australian so I needed to make sure that we could understand and communicate with each other. I wanted to learn as much as I could about this disease which was a challenge because we had to rely on books and articles instead of the internet or support groups.

Interview with my Mom:

• How was your Myasthenia diagnosed? First the doctor tested my reflexes, muscle strength and tone, my balance and coordination. I had a blood test as well as an Edrophonium test which was an injection of edrophonium chloride to see if I had MG. The most painful was the repetitive nerve simulation test where small pulses of electricity were sent through electrodes that were over my muscles.

• What happened next? We decided to get a second opinion and traveled to the US where I underwent the same battery of tests. My doctor talked about removing my thymus as a possibility if my symptoms persisted over time and if they worsened. At that point we decided to try Mestinon which I took twice a day.

• You have lived with Ocular Myasthenia Gravis for over thirty years, can you share your symptoms at their worst? Crossing the street, needing to focus ahead while my eyelid drooped and I had double vision was the worst. Trying to do daily tasks when both natural and artificial light made it hard to see. I often wore dark sunglasses inside. Sudden bouts of choking were dangerous, especially during meals. When I was tired or stressed, sometimes my speech was slurred.

Interview with my Mom:

• You have lived with Ocular Myasthenia Gravis for over thirty years, can you share your symptoms at their best? Over the years, I have been lucky to be in remission for years. During this time, my ptosis and diplopia have disappeared and I have not taken any medication. I have recognized when I am tired or stressed and then carefully monitor my eyes. I also am aware of what to do when the sunlight is too bright or too low on the horizon. I am aware of my immediate environment in order to ‘prevent’ symptoms from emerging stronger. Usually after a very stressful time, the symptoms come back. Often in the Fall or Spring, when the sun is lower and shines in my eyes, they may come back.

• How are you today? Today I am still sensitive to bright sunlight and/or artificial light and so I take prednisone, 10mg a day. I am not experiencing ptosis, diplopia, slurred speech or choking incidents. I try and stay physically healthy and eat a balanced diet.

• How has this affected your personal life? Overall this disease has been challenging and scary for me and for my family, especially when my symptoms are at their worst. My family has been supportive and we are able to have honest discussions about my symptoms and treatments.

Interview with my Mom:

• How has this affected your professional life? When I have been symptom free, I have been able to work in the school library without any problems. I always made sure that my desk was in front of the windows and that the natural light was behind me. When my symptoms returned, I took my medication and made sure that I could focus to do my job. I was lucky that my colleagues and my bosses were supportive.

• What advice would you give to someone with this same condition? Stay positive and informed, ask questions and live your life as fully as you can. Don’t let other people tell you what you can do, and what you can see because you need to be in control of your vision and your behaviors.

• Thanks Mom, for your interview Thank you for letting me share my experiences.

Interview with my Mom:

Focused MGFA Research Priorities Etiology- what is the basic cause of the

MG? Detection and early diagnosis: Would

earlier diagnosis lead to improved treatment?

Genetics of MG. Enhance understanding and application

of current treatments of MG Thymus: how exactly does the thymus

gland promote the production of acetylcholine receptor antibodies?

New therapeutic targets identified for MG, with the goal of improved treatment responses and fewer adverse events

New strategies for treatment including development of potential vaccine therapies.

Quality of Life: develop better strategies to improve quality of life and develop rigorous research methods to study quality of life in MG.

Collateral effects of MG.

RESEARCH HIGLIGHTS

Resourceshttp://www.mayoclinic.org/diseases-conditions/myasthenia-gravis/basics/symptoms/con-20027124http://www.mayoclinic.org/diseases-conditions/myasthenia-gravis/basics/causes/con-20027124http://www.mayoclinic.org/diseases-conditions/myasthenia-gravis/basics/treatment/con-20http://www.ninds.nih.gov/disorders/myasthenia_gravis/detail_myasthenia_gravis.htm

http://www.nmd-journal.com/article/S0960-8966(05)00256-7/abstract

Resourceshttp://www.webmd.com/brain/understanding-myasthenia-gravis-basicshttp://myasthenia.org/Home.aspxhttp://myasthenia.org/LinkClick.aspx?fileticket=efzk1NMTJBk%3d&tabid=84http://www.ncbi.nlm.nih.gov/pubmed/3277598http://myasthenia.org/WhatisMG/ResearchHighlights.aspx

ttp://intranet.tdmu.edu.ua/data/kafedra/internal/vnutrmed2/classes_stud/en/med/lik/ptn/Clinical%20imunology/5%20course/04.%20The%20immunological%20aspects%20of%20autoimmune%20diseases.files/image016.jpg

Class notes from video lecturesInterview with my Mother, conducted July 2014

Thank you for watching