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Leukoencephalopathy with vanishing white matter (EIF2B5-related)

Leukoencephalopathy with vanishing white matter (VWM) is a progressive condition that causes problems with the nerves that connect the brain and spinal cord - this is because the myelin layer (white matter) that is supposed to protect these nerves breaks down. There are a number of genes that can cause VWM.

Symptoms related to this condition can appear at various stages of life. The most serious forms of this condition begin before birth and milder cases may present in adolescence or adulthood. Symptoms include delayed development of motor skills such as crawling or walking, muscle stiffness, difficulty swallowing and seizures. Symptoms progress over time and unfortunately, in many cases this condition causes early death. Some females who are affected by leukoencephalopathy with VWM also have abnormal development of their ovaries.

There is no cure for this condition, however early initiation of treatment and therapies are recommended to improve quality of life.

Quick facts about leukoencephalopathy with vanishing white matter (EIF2B5-related)
Genes: EIF2B5
Inheritance: Autosomal Recessive
Relevant resources for leukoencephalopathy with vanishing white matter (EIF2B5-related)

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is leukoencephalopathy with vanishing white matter (EIF2B5-related) inherited?

leukoencephalopathy with vanishing white matter (EIF2B5-related) is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.

If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.

If both parents are carriers of leukoencephalopathy with vanishing white matter (EIF2B5-related), there's a one in four chance that their children could develop symptoms.

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes leukoencephalopathy with vanishing white matter (EIF2B5-related), but there's a total 301 conditions that can be tested.

Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

Learn more about carrier screening

Should parents screen for leukoencephalopathy with vanishing white matter (EIF2B5-related) before or early in pregnancy?

The biggest benefit of screening for leukoencephalopathy with vanishing white matter (EIF2B5-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

Since 90% of children that have a recessive genetic disease like leukoencephalopathy with vanishing white matter (EIF2B5-related) had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.