Krabbe disease Save

Krabbe Disease: Understanding Symptoms and Causes

Krabbe Disease is a rare, inherited disorder that affects the nervous system. It is also known as globoid cell leukodystrophy and is caused by a deficiency of the enzyme galactocerebrosidase. The disease is named after the Danish neurologist Knud Krabbe, who first described the condition in 1916.

There are two forms of Krabbe Disease: early-onset (infantile) and late-onset (juvenile or adult). The infantile form is the most common and severe type, with symptoms appearing within the first six months of life. The juvenile and adult forms are less common and typically have a more gradual onset and slower progression.

Symptoms of Krabbe Disease

The symptoms of Krabbe Disease can vary depending on the age of onset and severity of the condition. In the infantile form, symptoms may include:

1. irritability and fussiness
2. feeding difficulties and poor weight gain
3. muscle weakness and stiffness
4. seizures
5. vision loss and blindness
6. hearing loss and deafness

In the late-onset form, symptoms may include:

1. loss of muscle coordination and balance
2. muscle weakness and stiffness
3. vision loss and blindness
4. hearing loss and deafness
5. difficulty speaking and swallowing

Causes of Krabbe Disease

Krabbe Disease is caused by a mutation in the GALC gene, which provides instructions for making the galactocerebrosidase enzyme. Without this enzyme, toxic substances accumulate in the nervous system and cause damage to the myelin sheath that surrounds and protects nerve fibers. This results in the symptoms of Krabbe Disease.

Krabbe Disease is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy that their child will inherit two copies and develop Krabbe Disease.

Conclusion

Krabbe Disease is a rare and devastating disorder that affects the nervous system. The symptoms and severity of the condition can vary depending on the age of onset and progression of the disease. While there is no cure for Krabbe Disease, early diagnosis and management of symptoms can improve the quality of