Myasthenia Gravis

What is myasthenia gravis?

Myasthenia gravis, sometimes called MG, is a chronic (long-lasting) disease that causes weakness in your voluntary muscles. The voluntary muscles are the ones that you can control. They include the muscles you use for:

• Eye and eyelid movement
• Facial expressions
• Chewing
• Talking
• Swallowing
• Breathing
• Moving your arms and legs

You can also have weakness in other muscles. This weakness gets worse with activity, and better with rest.

Myasthenia gravis is a type of autoimmune disease. In autoimmune diseases, your immune system attacks the healthy cells of your organs and tissues by mistake.

Myasthenia gravis is caused by an error in how nerve signals are sent to muscles. These signals get blocked at the nerve-muscle junction. This junction is the place where the nerve endings connect with the muscles they control.

Normally, this is how the signals work:

• The signals travel down a nerve that controls movement in the muscle
• The nerve endings release a substance called acetylcholine
• Acetylcholine binds to the muscle tissue at the nerve-muscle junction
• This causes the muscle to contract (move)

But in someone with myasthenia gravis, the body's own immune system makes antibodies that block the binding of acetylcholine to the muscle. This makes the muscles weaker.

The thymus gland, which is part of your immune system, may play a role in myasthenia gravis. Normally, your thymus gland is active and growing when you are a child. It makes white blood cells to fight infections. At puberty, it starts getting smaller and is replaced by fat. It is usually small by the time you are an adult. But in many adults with myasthenia gravis, the thymus gland stays large. And some people with myasthenia gravis can get thymomas, which are tumors of the thymus. The are usually benign (not cancer), but they can sometimes become cancerous.

Although myasthenia gravis can affect people of any age, it is most common in young adult women (under age 40) and older men (over age 60). It is usually not inherited (passed down in families).

Myasthenia gravis normally does not affect infants. But if you are pregnant and have myasthenia gravis it's possible to pass the antibodies to your fetus. The baby can then be born with neonatal myasthenia. This condition is usually temporary, and the symptoms typically go away within two to three months after birth.

The symptoms of myasthenia gravis will depend on which muscles are affected. The symptoms often include:

• Weakness of the eye muscles
• Drooping of one or both eyelids
• Blurred or double vision
• Changes in facial expressions
• Trouble swallowing
• Shortness of breath
• Speech problems
• Weakness in the arms, hands, fingers, legs, and neck

Different people have different levels of muscle weakness. And the weakness can vary from day to day. Some days it might be mild, and other days it might be worse. Physical activity often makes the muscle weakness worse.

Some people with myasthenia gravis can get severe weakness that affects the muscles that control breathing. This is called a myasthenic crisis, and it is a life-threatening emergency.

There are many other conditions that can cause muscle weakness, so myasthenia gravis can be hard to diagnose. To find out if you have myasthenia gravis, your health care provider:

• Will ask about your medical history and symptoms
• Will do a physical exam, including a neurological exam
• Will likely order tests for myasthenia gravis, including:
  • Blood tests
  • Imaging tests
  • Electromyography (EMG) and nerve conduction studies

There is no cure for myasthenia gravis, but treatments that can improve muscle weakness and help with symptoms. They include:

• Anticholinesterase medicines, which can improve nerve-to-muscle messages and make muscles stronger.
• Immunosuppressive medicines, which are medicines that decrease your body's immune system responses. They can lower your body's production of abnormal antibodies.
• Monoclonal antibodies, which can also help decrease your body's immune system responses.
• Plasmapheresis (plasma exchange) and intravenous immunoglobulin, which are procedures to remove abnormal antibodies from your blood. They are usually used in severe cases. They can help with symptoms for a few weeks or months.
• Thymectomy, surgery to remove the thymus gland. It can reduce the symptoms of myasthenia gravis, possibly by rebalancing the immune system.

Lifestyle changes may be helpful for some people. The changes could include regular gentle exercise, getting enough rest, and eating healthy foods.

Some people with myasthenia gravis go into remission. This means that they do not have symptoms. The remission is usually temporary, but sometimes it can be permanent.

NIH: National Institute of Neurological Disorders and Stroke

Myositis

Myositis means inflammation of the muscles that you use to move your body. An injury, infection, or autoimmune disease can cause it. Two specific kinds are polymyositis and dermatomyositis. Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. Dermatomyositis causes muscle weakness, plus a skin rash.

Other symptoms of myositis may include:

• Fatigue after walking or standing
• Tripping or falling
• Trouble swallowing or breathing

Doctors may use a physical exam, lab tests, imaging tests and a muscle biopsy to diagnose myositis. There is no cure for these diseases, but you can treat the symptoms. Polymyositis and dermatomyositis are first treated with high doses of a corticosteroid. Other options include medications, physical therapy, exercise, heat therapy, assistive devices, and rest.

NIH: National Institute of Neurological Disorders and Stroke

Neurofibromatosis

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.

There are three types of neurofibromatosis:

• Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth.
• Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years.
• Schwannomatosis causes intense pain. It is the rarest type.

Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines.

NIH: National Institute of Neurological Disorders and Stroke

Neurologic Diseases

The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood.

There are more than 600 neurologic diseases. Major types include:

• Diseases caused by faulty genes, such as Huntington's disease and muscular dystrophy
• Problems with the way the nervous system develops, such as spina bifida
• Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease
• Diseases of the blood vessels that supply the brain, such as stroke
• Injuries to the spinal cord and brain
• Seizure disorders, such as epilepsy
• Cancer, such as brain tumors
• infections, such as meningitis

Neuromuscular Disorders

Neuromuscular disorders affect your neuromuscular system. They can cause problems with:

• The nerves that control your muscles
• Your muscles
• Communication between your nerves and muscles

These disorders can cause your muscles to become weak and waste away. You may also have symptoms such as spasms, twitching, and pain.

Examples of neuromuscular disorders include:

• Amyotrophic lateral sclerosis
• Muscular dystrophy
• Myasthenia gravis
• Spinal muscular atrophy

There can be different causes for these diseases. Many of them are genetic.This means they are inherited (run in families) or are caused by a new mutation in your genes. Some neuromuscular disorders are autoimmune diseases. Sometimes the cause is unknown.

Many neuromuscular diseases have no cure. But treatments may improve symptoms, increase mobility, and lengthen life.