Tag Archives: Muscle

Muscle-Eye-Brain Disease

What is Muscle-Eye-Brain Disease?
Muscle-eye-brain disease (MEB) is an inherited condition causing a number of symptoms including muscle weakness, vision abnormalities, brain structure abnormalities, and severe mental disability.MEB causes congenital muscular dystrophy, a form of muscle weakness that is present from birth or develops shortly after birth. It causes an infant to feel floppy in all of his or her muscles, including those of the face. He or she may also exhibit involuntary muscle jerks or twitches.Eye problems associated with MEB include severe near-sightedness and glaucoma, among others.Another hallmark of MEB is a brain abnormality known as cobblestone lissencephaly (or type II lissencephaly). The brain develops a bumpy “cobblestone” appearance and lacks the normal folding structure. Other structural changes in the brain are also present. Children with MEB may have a buildup of fluid around the brain that can create a dangerous amount of pressure.The severity of symptoms can vary among people with MEB.

How Common is Muscle-Eye-Brain Disease?
MEB is very rare, although its exact prevalence is unknown.

How is Muscle-Eye-Brain Disease Treated?
There is no successful treatment or cure for MEB. Medical specialists can help treat specific symptoms, such as using medication to control seizures, physical and occupational therapy to aid in movement, and special eye glasses to help make the most of the child’s vision.

What is the Prognosis for a Person With Muscle-Eye-Brain Disease?
The prognosis for a person with MEB varies depending on the severity of the symptoms, but is generally poor. Studies have shown people with MEB typically die between the ages of 6 and 16.

Resources
Muscular Dystrophy Association
A non-profit organization that supports research into and education about neuromuscular diseases. It is best known for its annual telethon led by entertainer Jerry Lewis.

  • 3300 East Sunrise Drive
    Tucson, AZ 85718
  • Phone: (800) 572-1717
  • Secondary Phone: (520) 529-2000
  • mda@mdausa.org

Lupus Awareness Month

Lupus is a chronic, autoimmune disease that can damage any part of the body (skin, joints, and/or organs inside the body). Chronic means that the signs and symptoms tend to last longer than six weeks and often for many years.

In lupus, something goes wrong with your immune system, which is the part of the body that fights off viruses, bacteria, and germs (“foreign invaders,” like the flu). Normally our immune system produces proteins called antibodies that protect the body from these invaders. Autoimmune means your immune system cannot tell the difference between these foreign invaders and your body’s healthy tissues (“auto” means “self”) and creates autoantibodies that attack and destroy healthy tissue. These autoantibodies cause inflammation, pain, and damage in various parts of the body.

Lupus is also a disease of flares (the symptoms worsen and you feel ill) and remissions (the symptoms improve and you feel better).

These are some additional facts about lupus that you should know:

  • Lupus is not contagious, not even through sexual contact. You cannot “catch” lupus from someone or “give” lupus to someone.
  • Lupus is not like or related to cancer. Cancer is a condition of malignant, abnormal tissues that grow rapidly and spread into surrounding tissues. Lupus is an autoimmune disease, as described above.
  • Lupus is not like or related to HIV (Human Immune Deficiency Virus) or AIDS (Acquired Immune Deficiency Syndrome). In HIV or AIDS the immune system is underactive; in lupus, the immune system is overactive.
  • Lupus can range from mild to life-threatening and should always be treated by a doctor. With good medical care, most people with lupus can lead a full life.
  • Our research estimates that at least 1.5 million Americans have lupus. The actual number may be higher; however, there have been no large-scale studies to show the actual number of people in the U.S. living with lupus.
  • More than 16,000 new cases of lupus are reported annually across the country.
  • It is believed that 5 million people throughout the world have a form of lupus.
  • Lupus strikes mostly women of childbearing age (15-44). However, men, children, and teenagers develop lupus, too.
  • Women of color are two to three times more likely to develop lupus than Caucasians.
  • People of all races and ethnic groups can develop lupus.

What are the common symptoms of lupus?
Because lupus can affect so many different organs, a wide range of symptoms can occur. These symptoms may come and go, and different symptoms may appear at different times during the course of the disease.

The most common symptoms of lupus, which are the same for females and males, are:

  • Extreme fatigue (tiredness)
  • Headaches
  • Painful or swollen joints
  • Fever
  • Anemia (low numbers of red blood cells or hemoglobin, or low total blood volume)
  • Swelling (edema) in feet, legs, hands, and/or around eyes
  • Pain in chest on deep breathing (pleurisy)
  • Butterfly-shaped rash across cheeks and nose
  • Sun- or light-sensitivity (photosensitivity)
  • Hair loss
  • Abnormal blood clotting
  • Fingers turning white and/or blue when cold (Raynaud’s phenomenon)
  • Mouth or nose ulcers

Many of these symptoms occur in other illnesses. In fact, lupus is sometimes called “the great imitator” because its symptoms are often like the symptoms of rheumatoid arthritis, blood disorders, fibromyalgia, diabetes, thyroid problems, Lyme disease, and a number of heart, lung, muscle, and bone diseases.

Muscle-Eye-Brain Disease

What is Muscle-Eye-Brain Disease?
Muscle-eye-brain disease (MEB) is an inherited condition causing a number of symptoms including muscle weakness, vision abnormalities, brain structure abnormalities, and severe mental disability.MEB causes congenital muscular dystrophy, a form of muscle weakness that is present from birth or develops shortly after birth. It causes an infant to feel floppy in all of his or her muscles, including those of the face. He or she may also exhibit involuntary muscle jerks or twitches.Eye problems associated with MEB include severe near-sightedness and glaucoma, among others.Another hallmark of MEB is a brain abnormality known as cobblestone lissencephaly (or type II lissencephaly). The brain develops a bumpy “cobblestone” appearance and lacks the normal folding structure. Other structural changes in the brain are also present. Children with MEB may have a buildup of fluid around the brain that can create a dangerous amount of pressure.The severity of symptoms can vary among people with MEB.

How Common is Muscle-Eye-Brain Disease?
MEB is very rare, although its exact prevalence is unknown.

How is Muscle-Eye-Brain Disease Treated?
There is no successful treatment or cure for MEB. Medical specialists can help treat specific symptoms, such as using medication to control seizures, physical and occupational therapy to aid in movement, and special eye glasses to help make the most of the child’s vision.

What is the Prognosis for a Person With Muscle-Eye-Brain Disease?
The prognosis for a person with MEB varies depending on the severity of the symptoms, but is generally poor. Studies have shown people with MEB typically die between the ages of 6 and 16.

Resources
Muscular Dystrophy Association
A non-profit organization that supports research into and education about neuromuscular diseases. It is best known for its annual telethon led by entertainer Jerry Lewis.

  • 3300 East Sunrise Drive
    Tucson, AZ 85718
  • Phone: (800) 572-1717
  • Secondary Phone: (520) 529-2000
  • mda@mdausa.org