overview
Krabbe disease (KRAH-buh) is a hereditary disease that destroys the protective layer (myelin) of the nerve cells in the brain and in the entire nervous system.
In most cases, the signs and symptoms of Crab Disease in babies develop before 6 months of age, and the disease usually results in death by 2 years of age. If it develops in older children and adults, the course of the disease can vary widely.
There is no cure for crab disease and treatment focuses on supportive care. However, stem cell transplants have shown some success in infants treated before symptoms appear and in some older children and adults.
Crab disease affects about 1 in 100,000 people in the United States. It is also known as globoidal cell leukodystrophy.
symptoms
In most cases, the signs and symptoms of Krabbe disease appear within the first 2 to 5 months of life. You start gradually and gradually.
Toddlers
Common signs and symptoms at the onset of the disease are:
- Feeding difficulties
- Inexplicable crying
- Extreme irritability
- Fever with no evidence of infection
- Decreased vigilance
- Delays in typical developmental stages
- Muscle spasms
- Loss of head control
- Frequent vomiting
The reasons
Krabbe disease is caused when a person inherits two copies of an altered (mutated) gene – one copy from each parent.
A gene provides a kind of model for the production of proteins. If there is a flaw in this plan, the protein product may not work properly. In the case of Krabbe disease, two mutated copies of a particular gene result in little or no production of an enzyme called galactocerebrosidase (GALC). Krabbe disease Treatment in Khammam
Enzymes like GALC are responsible for breaking down certain substances in the recycling center of a cell (lysosome). In Krabbe disease, the lack of GALC enzymes leads to the formation of certain types of fats called galactolipids.
Risk factors
- Autosomal recessive inheritance model
- Autosomal Recessive Inheritance Pattern Open Context Dialog
- The gene mutation associated with Krabbe disease only causes the disease when two mutated copies of the gene are inherited. A disease that results from two mutated copies is known as an autosomal recessive disorder. Krabbe disease Treatment in Khammam
If every parent has a mutated copy of the gene, the risk to a child would be as follows:
- A 25 percent chance of inheriting two mutated copies that would lead to the disease
- 50% chance of inheriting from a single mutated copy which would result in the child carrying the mutation but not causing the disease itself
- A 25 percent chance of inheriting two normal copies of the gene. Krabbe disease Treatment in Khammam