There are not that many people who know what krabbe disease is. The main reason why that is so is because the disease is not that common and according to the studies only one person out of 100,000 suffers from it in the United States. People need to know that it is an inherited disorder that affects the central nervous system. It is not uncommon for the disorder to be fatal.
Krabbe disease overview
A person who suffers from this disorder will have its muscle tone and movement affected. Apart from that, people may experience vision and hearing loss, among other things. The most common people that Krabbe disease affects are babies not older than 6 months of age but people of other ages can be affected by it as well.
People need to know that there is no cure for this disease and all the treatments focus on easing the symptoms. However, people need to know that stem cell transplants studies for the treatment of the disease before the symptoms begin had some success.
Early onset of Krabbe disease
Feeding difficulties, unexplained crying, loss of head control, fevers, vomiting, severe irritability, changes in muscle tone, seizures, progressive loss of hearing and sight and loss of developmental milestones are the most common symptoms of the more common form of Krabbe disease. This form develops in the early months of life.
Late-onset Krabbe disease
This form of the disease is not that common and it occurs in the later stages of life. A person will experience all the mentioned symptoms and some new like visual impairment that leads to blindness, difficulty walking and loss of manual dexterity.
The disease will progress a lot faster if the child is really young.
A parent needs to take the child to the doctor if he or she notices some of the symptoms of the disease, like seizures or limb stiffness.
A deficiency in an enzyme known as galactocerebrosidase is known to be the cause of Krabbe disease. This deficiency occurs due to a genetic defect.
Pre-pregnancy screening is essential when prevention of Krabbe disease is considered. If the spouse is known to have gene responsible for the disease, the mother needs to talk to a doctor about undergoing genetic counseling if she is considering pregnancy. Getting to know the risks is very important as well.
Newborn screening is important as well due to stem cell transplants, which are important for delaying the onset of the disease.