Krabbe disease (KRAH-bay 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.
Complications of Krabbe’s disease
Causes of Krabbe’s disease
Signs & Symptoms of Krabbe’s disease
Early-onset Krabbe disease
In the more common form of Krabbe disease, which develops in the first months of life, signs and symptoms often include:
Late-onset Krabbe disease
When children have the late-onset form of the disease — which develops later in childhood or in adolescence — they may experience the signs and symptoms above, as well as other signs that may include:
As a general rule, the younger the age that Krabbe disease occurs, the faster it progresses. Some people diagnosed during adolescence or adulthood may have less-severe symptoms, with muscle weakness as a primary symptom. They may have no impairment of their cognitive abilities.
Diagnosis of Krabbe’s disease
Your doctor will conduct a physical exam of your child, evaluating signs and symptoms that may indicate Krabbe disease, and then conduct a number of diagnostic tests. Your child's doctor will take a blood sample and obtain a skin sample (biopsy), and send both to a laboratory for analysis. There, a lab technician will measure the activity of the GALC enzyme. If GALC activity level is low, your child may have Krabbe disease. Although the results of these tests can help your doctor make a diagnosis, they don't provide evidence of how quickly the disease may progress. For example, a very low GALC activity finding doesn't always mean that the condition will advance rapidly.
To confirm the diagnosis, your doctor will recommend one or more of the following tests:
Before birth, a fetus can be screened for Krabbe disease. To do this, your doctor withdraws amniotic fluid surrounding the fetus using a needle, and then the cells in this fluid can be examined in the lab. A prenatal diagnosis of Krabbe disease can be made by evaluating the activity of GALC enzymes found in these cells or by genetic mutation analysis.
Treatments of Krabbe’s disease
There's no specific, proven treatment for Krabbe disease, nor is there a cure. Krabbe disease treatment is designed primarily to ease symptoms. For example, anticonvulsant medications may be used to manage the seizures associated with this disease. Other drugs may reduce the incidence of vomiting. Some older children with less-severe forms of the disease may benefit from physical therapy, which is intended to minimize deterioration of muscle tone. Some may also benefit from occupational therapy, in which they'll learn to achieve as much independence as possible — for example, learning to dress themselves, brush their teeth and feed themselves.
Some research indicates possible benefits associated with the use of bone marrow transplantation or cord blood transfusion as treatments for Krabbe disease:
Prevention of Krabbe’s disease
If you or your spouse are known to be carriers of the gene abnormality responsible for Krabbe disease — or have extended family members who have developed the disorder — talk with your doctor about undergoing genetic counseling if you're considering pregnancy, in order to better understand the possible risks.
Because stem cell transplants may delay the onset of Krabbe disease when given before symptoms begin, screening newborns may become more important. New York State has already adopted universal newborn screening for Krabbe disease and Illinois plans to do so by 2010. Even when transplant isn't feasible, screenings allow for early detection, which can help improve an infant's quality of life by intervening with supportive care earlier. If you don't live in a state where screening is commonplace and you have a family history of Krabbe disease, talk with your doctor about having your newborn screened.
When to seek Medical Advice
If you notice symptoms in your child that could indicate the presence of Krabbe disease — such as seizures or limb stiffness — have him or her evaluated by your doctor. If your doctor suspects Krabbe disease, he or she will refer you to a specialist with expertise in the diagnosis and management of this disorder. That specialist can discuss the available treatment options with you. Because this condition can progress quickly, it's important to see a doctor promptly if you suspect the disease is present.