What is Krabbe disease?
Krabbe disease is a rare genetic condition that affects how the body breaks down fat in the brain.
It is inherited in an autosomal recessive pattern. This means that both parents must carry the gene mutation for their child to be affected.
What causes Krabbe disease?
Krabbe is caused when the body does not produce enough of the enzyme galactocerebrosidase (GALC). GALC breaks down fat helping to maintain myelin, the layer protecting nerve cells.
When myelin breaks down, nerves become damaged and unable to send messages around the body as they should.
What are the symptoms of Krabbe disease?
Symptoms vary depending on the age of the child when the condition is first noticed.
Babies and infants (before age 1)
- Irritability
- Muscle weakness
- Feeding difficulties
- Fever
- Stiffness in the arms and legs
- Developmental delays
- Vision loss
- Seizures
In an older child, you may notice:
- Muscle weakness, stiffness or spasms
- Difficulty with walking, reaching or holding objects
- Vision problems
- Changes in thinking and memory
In rare cases, the symptoms of Krabbe disease may not appear until teenage years or later. In such cases symptoms tend to be less severe and progress more slowly.
Managing a rare condition like Krabbe can be lonely at times, but you are not alone. There are other conditions like Krabbe that affect myelin and nerve connections. By learning about related conditions such as Canavan’s and metachromatic leukodystrophy you can connect with other families and communities to help support you on this journey.
