About Krabbe Disease

Due to the rarity of the disorder I found that it’s often hard to get a full description of the disease through one source online, based on that I tried to compile a description based on the sources that I found most helpful.

From the Mayo Clinic –
Krabbe disease (KRAH-buh disease) is an inherited, often fatal disorder affecting the central nervous system. Krabbe disease affects about 1 in every 100,000 people in the United States.

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, although it can occur in older children and in adults.

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

http://www.mayoclinic.com/health/krabbe-disease/DS00937

From About.com –

The enzyme galactosylceramide beta-galactosidase (GALC) breaks down several important compounds in the body. In Krabbe disease, there isn’t enough GALC available, and substances which should be broken down start to accumulate. The build-up of these substances damages the nerve cells in the central nervous system, destroying many of them and preventing the repair of others.It is estimated that Krabbe disease affects 1 in 100,000 people worldwide, with higher incidences reported in some areas. It affects people of all ethnic backgrounds.

Four subtypes
Krabbe disease is divided into four subtypes based on when the disease begins:

• Type 1 – Infantile: begins at age 3 – 6 months
• Type 2 – Late infantile: begins at age 6 months – 3 years (This is like Lauren)
• Type 3 – Juvenile: begins at age 3 – 8 years
• Type 4 – Adult onset: begins any time after 8 years of age

Symptoms
Since Krabbe disease affects the nerve cells, the symptoms it causes are neurological. Type 1, the infantile form, accounts for 85-90% of known cases. It progresses through three stages:

• Stage 1 begins around age 3 – 6 months. The infant stops developing and becomes irritable and has high muscle tone (muscles are stiff or tense). The infant has trouble feeding.
• Stage 2 brings more rapid nerve cell damage, leading to loss of use of muscles, increasing muscle tone, arching of the back, and damage to vision. Seizures may begin.
• Stage 3 is the end stage, in which the infant becomes blind, deaf, unaware of his surroundings, and fixed in a stiff posture. The average lifespan in Type 1 Krabbe disease is 13 months.

Type 2, 3, and 4 Krabbe disease begin after a period of normal development. These types progress more slowly than Type 1. Children generally do not survive beyond two years after Type 2 begins, but in Types 3 and 4 the lifespan reduction may vary, and the symptoms may not be as severe.

 

Treatment
There is at present no way to stop Krabbe disease or cure it once it is in full swing. However, if an individual is diagnosed before symptoms begin, or symptoms start later in life and progress slowly, it is possible to use bone marrow or stem cell transplantation as treatment. The transplant adds normally-functioning cells which can produce GALC.

http://rarediseases.about.com/cs/krabbedisease/a/020104.htm