Krabbe Disease

Monday, May 05, 2014

Krabbe disease is a rare and usually deadly disorder of the nervous system. Dr. Edward Hill discusses Krabbe disease in todays 60 Second Housecall.

Dr. Hill:

Krabbe (KRAH-buh) disease is an inherited, often fatal disorder affecting the central nervous system. The disease affects muscle tone and movement, and may cause vision and hearing loss, among other devastating effects. In most cases, Krabbe disease develops in babies before 6 months of age. It affects about 1 in every 100,000 people in the United States.

Krabbe disease is caused by a genetic defect that results in a deficiency affecting the maintenance of myelina fatty substance that insulates your nerve fibers. Signs and symptoms can include:

Feeding difficulties

Loss of head control

Changes in muscle tone

Seizures

Progressive loss of hearing and sight, and

Spasticity

If you notice symptoms in your child that could indicate the presence of Krabbe disease such as seizures or limb stiffness have your child evaluated by your doctor.

Theres no cure for Krabbe disease, and treatment mainly involves approaches designed to ease symptoms. Early studies using stem cell transplants to treat Krabbe disease before symptoms begin have had some success.

For North Mississippi Medical Center, Im Dr. Edward Hill.