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Leukoencephalopathy with Vanishing White Matter 1
A leukoencephalopathy with vanishing white matter that is caused by homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
What are leukodystrophies? Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes: Nerve fibers, also called axons, which connect your nerve cells Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells. When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking. There are over 50 types of…
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.