Krabbe Disease Symptoms

Published on Mar 10 2010, in the categories: Krabbe, symptoms


Krabbe Disease is relatively unknown, despite the fact that this medical condition is very serious and often fatal. Any woman who is expecting a baby should be aware of the existence of Krabbe disease and its signs and symptoms. As happens with many other genetic disorders, there is no cure for the Krabbe disease, although if treated early, many times you can extend the life expectancy of a baby or a child suffering from this disorder.


What is Krabbe Disease? Krabbe Disease is a rare, degenerative disorder that affects the central nervous system and the peripheral one. It is a genetic disorder. Krabbe's disease is classified as a leukodystrophy, which is caused by mutation of certain specific genes. It is sometimes called globoid cell leukodystrophy. On the other hand, Krabbe disease affects only a small number of people around the world. In America, about 1 in 100,000 to 200,000 children suffer from this disease.


What are the Causes of Krabbe Disease? - Krabbe Disease is the result of a genetic mutation passed from father to son. Specifically, galactosylceramidase gene (GALC) becomes abnormal, damaging the central nervous system. The GALC gene is responsible for production and maintenance the delicate protective membranes, called myelin, responsible for protecting the nerves. However, due to genetic mutation is not reached GALC producing enough enzymes to create the membranes lining these nerves. As a result, the nerves of the brain are damaged, resulting in very severe Krabbe disease symptoms.

How do you catch or transfer Krabbe Disease? - Krabbe's disease is passed from parents to children during the time of conception. Each parent has a copy of the GALC gene, which is transferred to the baby. Some parents carry an abnormal version of this gene, although they do not get to express any kind of the Krabbe disease symptoms that could allow a glimpse of the presence of Krabbe disease in them. When both parents carry this gene mutation, there is a 25% chance that your child will develop the Krabbe Disease.

Who Can Get Krabbe Disease? - Krabbe's Disease usually affects children, although it is no longer noticed in older children and even adults. The symptoms of Krabbe disease tend to be more severe in younger children. The subtypes of Krabbe disease are categorized according to the age at which first symptoms manifest themselves.

Type 1: Infantile Krabbe disease (onset between 3 months and 6 months.)
Type 2: Krabbe Disease of Adult Children (starts between 6 months and 3 years.)
Type 3: Juvenile Krabbe disease (onset between 3 years and 8 years.)
Type 4: Adult Krabbe disease (onset after 8 years of age.)


Prognosis - Krabbe Disease is not related to good prognosis. Most children with Krabbe's disease are expected to live about two years. However, many children with this disease have lived much longer; some have even reached the age of 8. Those who develop Krabbe disease in adult children may have better forecasts, as well as with adults, because the symptoms tend to be less severe.
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One comment on “Krabbe Disease Symptoms

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  • Katelyn Losacano said on 05/26/2010:

    This is so sad that they hardley get a life to live. My advice would be if both parents have the disease don't have children because they could have the possibility of not living long and thats sad.

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