Tag Archives: Eye

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

National Congenital Cytomegalovirus Awareness Month

Cytomegalovirus (CMV) is a common virus that infects people of all ages and is usually harmless to people with a healthy immune system. Most people have been exposed to CMV at some point in their lifetime without realizing it. It is estimated that 50-80% of adults in the United States have been infected with CMV by the time they reach 40 years old. Most infections with CMV are “silent” or asymptomatic, meaning most people who are infected with CMV have no signs or symptoms. Once CMV is in a person’s body, it stays there for life. no signs or symptoms occurs when a pregnant woman is exposed to CMV and the CMV passes from the pregnant woman to her unborn child, causing birth defects and developmental disabilities.

Acquired CMV infection is when a person is infected with CMV after birth, during childhood or adulthood.

Acquired CMV
Most healthy people with an acquired CMV infection will generally have few, if any, symptoms or complications from the infection. Because infections among healthy persons are common and typically asymptomatic, efforts to prevent transmission among healthy children and adults are not necessary.

At-Risk Populations
CMV can cause serious problems for people with weakened immune systems (immunocompromised) due to organ transplants, HIV/AIDS infection, chemotherapy, and medications such as glucocorticoids, cytostatics, antibodies, drugs acting on immunophilins, as well as other drugs.

In children and adults with organ transplants, CMV infections are linked with rejection or malfunction of the transplant.

In immunocompromised people, CMV can attack specific organs. Types and symptoms of CMV infections include, but are not exclusive/limited to:

  • Esophagus (CMV esophagitis)
  • Stomach or intestines (CMV gastroenteritis) – Diarrhea, swallowing difficulties or pain, and ulcerations with bleeding
  • Eye (CMV retinitis) – Blindness, floaters in the eye, and visual impairment
  • Lung (CMV pneumonia) – Pneumonia with impaired oxygen uptake (hypoxia)
  • Brain – Coma, encephalitis with behavioral changes, and seizures

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