Symptoms of GALC Gene Krabbe Disease
Krabbe disease, also known as globoid cell leukodystrophy, is a rare and often severe disorder that affects the nervous system. It is caused by mutations in the GALC gene, which leads to a deficiency in an enzyme necessary for the metabolism of certain lipids in the body. This deficiency results in the accumulation of toxic substances in the brain, leading to the damage of the white matter. Symptoms of Krabbe disease can vary significantly among individuals but generally fall into two categories based on the age of onset: early-onset (infantile) and late-onset (juvenile to adult).
Early-Onset Krabbe Disease
Early-onset Krabbe disease is the most common form, with symptoms typically appearing within the first six months of life. These can include:
- Extreme irritability and fussiness
- Feeding difficulties
- Unexplained fevers
- Severe episodes of stiffness, particularly in the limbs
- Developmental delays, such as in rolling over and crawling
- Progressive loss of hearing and sight
As the disease progresses, affected infants may experience worsening neurological symptoms, leading to severe disability and, eventually, death often by the age of 2.
Late-Onset Krabbe Disease
Late-onset Krabbe disease presents a broader range of symptoms that can appear in childhood, adolescence, or even adulthood. These symptoms tend to progress more slowly than in the early-onset form and can include:
- Muscle weakness and loss of muscle tone
- Difficulty with coordination and balance (ataxia)
- Changes in gait, such as walking on toes
- Visual impairment
- Loss of previously acquired skills
- Cognitive decline
- Peripheral neuropathy, leading to numbness or pain in the arms and legs
Although the progression of late-onset Krabbe disease is slower, it still significantly impacts the quality of life and can lead to early mortality.
GALC Gene Krabbe Disease Genetic Test
To confirm a diagnosis of Krabbe disease, a genetic test is available that looks for mutations in the GALC gene. This test is crucial for early detection and management of the disease. DNA Labs UAE offers the GALC Gene Krabbe Disease Genetic Test for individuals showing symptoms of Krabbe disease or those with a family history of the condition. The cost of the test is 4400 AED. Early diagnosis through genetic testing can provide valuable information for treatment planning and genetic counseling.
Understanding the symptoms of Krabbe disease and the availability of genetic testing can empower families to seek early intervention and support. Although there is currently no cure for Krabbe disease, management strategies can help alleviate symptoms and improve the quality of life for those affected. For more information about the GALC Gene Krabbe Disease Genetic Test, please visit DNA Labs UAE.
