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What is Myasthenia Gravis?

Myasthenia Gravis (MG) is a chronic neuromuscular disease that produces weakness. MG derives its name from Latin and Greek words meaning “grave muscle weakness”. The disease is characterized by abnormal weakness of voluntary muscles (those muscles controlled by will). This weakness increases with activity and decreases with periods of rest.

Cause

MG is an autoimmune disease which involves a malfunction at the junctions between nerves and muscles. The body manufactures abnormal antibodies which prevent the muscles from responding properly to the signals from the nerves. To date research has not revealed what activates the malfunction initially.

Current Treatments

The current treatments for MG are effective and the outlook for most patients is bright. Learning to live with MG requires some adjustments that will affect you and your whole family. It is vital that you and your family completely understand the illness and its treatment.   No known cure has been discovered to date.

Positive Future Prospects

Myasthenia Gravis, with proper treatment, is no longer a life threatening disease. Most patients will show significant improvement in their muscle weakness. In some cases, MG may go into remission, in which case the muscle weakness disappears. Remission may last as long as many years and during these periods, treatment may not be necessary. For most MG patients, a new norm quality of life is possible with consistent use of prescribed treatments, adjustment to a less stressful lifestyle, balanced diet, exercise, and more frequent rest.

Symptoms of Myasthenia Gravis

Symptoms may be any of the following, alone or in combination. Their severity may vary from person to person and from time to time:

  • Drooping eyelids
  • Double vision
  • Difficulty controlling facial expressions
  • Difficulty with chewing and swallowing
  • Slurred speech
  • Weakness in arms, legs or neck, difficulty in climbing, standing or holding head erect
  • Inability to raise arms over the head
  • Difficulty in breathing
  • Difficulty smiling

Who Gets It?

It occurs in both sexes, all races and all age groups. Most commonly it first appears in women between the ages of 20 and 40 and in men over 50. In general MG is being diagnosed more often in the elderly than it was in the past. It is not transmittable to others and with rare exceptions is not hereditary. 

How is Myasthenia Gravis Diagnosed?

Types of Myasthenia Gravis

(According to CORD Canadian Organization for Rare Disorders)

There are several types of myasthenia gravis (MG), an autoimmune disease that occurs when the immune system produces self-reactive antibodies that wrongly target and attack proteins needed for nerve-muscle communication.

All forms of MG result in symptoms of muscle weakness and fatigue, but differ in terms of which muscles are affected and when the disease emerges.

According to (CORD), there are three main types of myasthenia gravis:

  • Ocular MG
  • Generalized MG
  • Transient Neonatal MG

Patients may be further divided, by disease subtypes, based on the age of MG onset, the specific type of disease-causing antibodies they have, and on whether or not there is involvement of the thymus gland in neuromuscular dysfunction.

Ocular Myasthenia Gravis

About 10%-40% of patients have ocular MG, a form of the disease in which symptoms of muscle weakness and fatigue are restricted to the muscles that control the eye and eyelid movements.

Common symptoms of ocular myasthenia gravis include:

  • eyelid droopiness, called ptosis
  • double vision, known as diplopia.
  • About two-thirds of people living with MG will experience weakness in the eye or eyelid muscles as a first symptom of the disease. However, for many, the disorder will ultimately progress and spread to other muscle groups in the body. For those with ocular MG, symptoms typically do not spread to other muscles.

This type of MG tends to have a good prognosis for patients whose symptoms are kept well controlled with specific treatments.

  • Generalized myasthenia gravis
  • Generalized MG, known as gMG, is a form of the disease characterized by widespread muscle weakness and fatigue that is not confined to eye and eyelid muscles, or any other specific muscle groups.

It is estimated that about 85% of MG patients have the generalized form of the disease.

Although variable, reports indicate that up to 80% of patients who start off with eye-related symptoms will go on to develop gMG, which will typically happen in the first couple of years after symptoms emerge.

In addition to eye muscle weakness and fatigue, gMG may involve other parts of the body:

  • The limbs may be affected, causing difficulties with everyday activities like picking up items or climbing stairs.
  • The face may be impacted, causing problems with speaking and changes in facial expressions.
  • The throat and jaw may be affected, leading to difficulties in chewing and swallowing.
  • The respiratory muscles may be impacted, making breathing difficult and leading to life-threatening episodes known as myasthenic crises.
  • Which muscles are affected and how severe symptoms will be is highly variable among gMG patients. The respiratory muscles typically are impacted in about 10% of gMG patients, who may experience myasthenic crises.

Transient Neonatal Myasthenia Gravis

Transient neonatal MG is a rare type of the disease in which babies born to a mother with myasthenia gravis also will develop the disorder. It’s thought to occur in about 10%-20% of infants born to women with MG.

During pregnancy, the mother’s MG self-reactive antibodies can be passed on to the unborn child through the placenta, resulting in a similar autoimmune response in the fetus.

Symptoms are usually apparent shortly after birth and may include:

  • muscle weakness
  • impaired suckling or swallowing
  • a weak cry or respiratory insufficiency.

While serious, these symptoms usually disappear within a few weeks or months with supportive treatment.

This type of MG can occur when a mother has active disease or is in remission. There are no reliable ways to predict which babies will be born with the condition, and no known interventions for preventing it.

Additional classifications

Myasthenia gravis patients also may be grouped according to various disease subtypes, which can influence a person’s prognosis, treatment plan, and clinical presentation — essentially, the symptoms a patient experiences.

Based on age at disease onset

While MG can occur at any age, it is most commonly diagnosed in adult women younger than age 40 and in men older than 60. Patients can be categorized based on when their symptoms began, as follows:

Early-onset myasthenia gravis symptoms start in adulthood, but among patients younger than age 50. This type of MG more often affects women than men.

Late-onset myasthenia gravis symptoms emerge in adults after age 50. This form is more commonly seen in men.

Juvenile myasthenia gravis symptoms are found in children and teens, most often in teenage girls. In the U.S., about 1 in 10 cases of MG are this subtype.

Symptoms of juvenile myasthenia gravis may be similar to those seen in adults, but are typically lifelong.

Based on antibodies

MG is caused by the immune system’s production of self-reactive antibodies that target proteins important for nerve-muscle communication.

The two main types of MG-causing antibodies target acetylcholine receptors, known as AChRs, and muscle-specific kinase, or MuSK. But their effects are disproportionate:

Those targeting AChRs are the most common type of MG-causing antibodies, present in about 85% of patients.

The ones against MuSK are found in about 6% of people with MG.

MuSK antibodies are often associated with more severe, rapidly progressing disease and a higher incidence of respiratory crises compared with anti-AChR antibodies.

Some patients may not test positive for either anti-AChR or anti-MuSK antibodies, and are thus considered to be double-seronegative.

These individuals also may or may not test positive for more rare types of MG-causing antibodies, such as those targeting the lipoprotein receptor-related protein 4 (LPR4) or agrin, which have been more recently identified as a potential cause of MG.

Based on thymoma

Abnormalities in the thymus gland are thought to be implicated in the production of the self-reactive antibodies that drive MG. About 10%-15% of people with MG have a thymoma, or a thymus tumor, that is thought to underlie their MG.

Patients with a thymoma have been reported to have more severe symptoms and higher levels of anti-AChR antibodies compared with those without a thymoma. Thymoma-associated MG is less common in people with late-onset disease.

Thymomas can be difficult to diagnose in MG patients, as they may not cause any relevant signs, apart from a persistent cough or chest pain.

A surgical procedure to remove the thymus gland, called a thymectomy, can be an effective treatment for people with thymoma-associated MG.

For further information on MG or other Rare Diseases in Canada, please go to www.raredisorders.ca