What is Krabbe disease life expectancy?
On average, infants who develop Krabbe disease will die before age 2. Children who develop the disease later in life will live a bit longer, but typically die between 2 and 7 years after they’re diagnosed.
How long can you live with leukodystrophy?
Children diagnosed with late infantile MLD typically live another five to 10 years. In juvenile MLD, the life expectancy is 10 to 20 years after diagnosis. If the symptoms don’t appear until adulthood, people typically live 20 to 30 years after the diagnosis.
What does Krabbe disease do?
Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system. In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2.
Why is it called Krabbe disease?
Mutations in the GALC gene cause Krabbe disease. This gene provides instructions for making an enzyme called galactosylceramidase, which breaks down certain fats called galactolipids. One galactolipid broken down by galactosylceramidase, called galactosylceramide, is an important component of myelin.
Can leukodystrophy be cured?
There is no cure for most kinds of leukodystrophy. Treating it depends on the type, and doctors address the symptoms of the disease with medications and special kinds of physical, occupational, and speech therapy. Some people may need additional help with learning or nutrition.
How does leukodystrophy affect the brain?
Leukodystrophies are rare, inherited neurological disorders. They affect myelin, the protective covering around nerve cells in the brain and spinal cord. Nerves can’t communicate well without myelin. Leukodystrophies cause a range of symptoms, including seizures and mental impairment.
How is Krabbe disease diagnosed?
Krabbe disease is diagnosed based on the symptoms, clinical exam, and additional testing to check for the level of an enzyme that is low in people with Krabbe disease. This testing generally includes a blood test and/or skin biopsy . Diagnosis may be confirmed by the results of genetic testing .
Is Krabbe disease rare?
Krabbe disease is an inherited disorder, which means parents pass the gene for the disease to a child. Because it’s an inherited condition, couples may have more than one child with this disease. This is a rare condition. While older children may get this disease, it usually affects babies under six months old.
Is leukodystrophy fatal?
Leukodystrophies are progressive, so the neurological problems get worse over time. They’re usually fatal. Many children with leukodystrophy die before their teenage years. Some people survive into adulthood.