How long can you live with leukodystrophy?
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. Although there’s still no cure for MLD, more treatments are being developed.
Is metachromatic leukodystrophy fatal?
The prognosis for metachromatic leukodystrophy (MLD) is poor. The late infantile form of the disorder, the most common type, usually appears in the second year of life. This form typically progresses over approximately 5 to 10 years. Most children with the infantile form die by age 5.
Is Alexander disease always fatal?
Alexander disease is a progressive and often fatal disease. There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. The prognosis for individuals with Alexander disease is generally poor.
What triggers leukodystrophy?
The most common cause of metachromatic leukodystrophy is a mutation in the ARSA gene. This mutation results in a lack of the enzyme that breaks down lipids called sulfatides that build up in the myelin.
Is Alexander disease inherited?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene.
Can leukodystrophy be cured?
Metachromatic leukodystrophy can’t be cured yet, but clinical trials hold some promise for future treatment. Current treatment is aimed at preventing nerve damage, slowing progression of the disorder, preventing complications and providing supportive care.
How is leukodystrophy treated?
- Treatment for most types of leukodystrophy is symptomatic and supportive, and may include:
- Medications can be used to manage muscle tone, seizures, and spasticity.
- Stem cell or bone marrow transplantation is showing promise for a few types of leukodystrophy.
- One of the leukodystrophies is now a treatable disease.
How long does it take for leukodystrophy to develop?
Within 2 years of onset, gait disturbance, quadriplegia, blindness, and decerebrate posturing may be seen. Disease progression is inexorable, and death occurs 6 months to 4 years after onset of symptoms (, 5 ).
What are the different types of leukodystrophy in children?
Three different types of metachromatic leukodystrophy are recognized according to patient age at onset: late infantile, juvenile, and adult (, 6 ).
How does leukodystrophy in children cause spasticity?
Canavan disease, or spongiform leukodystrophy, is an autosomal recessive disorder caused by a deficiency of N-acetylaspartylase, which results in an accumulation of N-acetylaspartic acid in the urine, plasma, and brain. It usually manifests in early infancy as hypotonia followed by spasticity, cortical blindness, and macrocephaly (, 2).
Is the MR imaging feature of leukodystrophy nonspecific?
Although the MR imaging features of leukodystrophy are often nonspecific, systematic analysis of the finer details of disease involvement may permit a narrower differential diagnosis, which the clinician can then further refine with knowledge of patient history, clinical testing, and metabolic analysis.
