More symptom information
Learn more about specific symptoms of this leukodystrophy in the pages listed here.
Also known as: Myelinosis centralis diffusa, Cree leukoencephalopathy (infantile form), Childhood Ataxia with diffuse CNS hypomyelination (CACH), Ovarioleukodystrophy
Vanishing White Matter Disease (VWMD) is a rare genetic disorder affecting the brain’s white matter. It is caused by mutations in the EIF2B gene complex, leading to abnormal myelin formation. VWMD typically manifests in childhood with neurological symptoms, including ataxia, spasticity, and movement difficulties. Symptoms can worsen during periods of stress or illness. Treatment mainly focuses on managing symptoms, providing supportive care, and avoiding triggers that exacerbate symptoms.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Mutations in the five genes which encode the protein eIF2B, namely eIF2B1, eIF2B2, eIF2B3, eIF2B4 and eIF2B5, cause Vanishing White Matter Disease. This protein is used to produce all other proteins, so survival is not possible in the absence or malfunction of these genes. In Vanishing White Matter Disease, small changes to these genes reduce the function of eIFB2. This reduced functioning makes the body vulnerable, particularly during fevers, infections or head trauma.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
The severity of symptoms of Vanishing White Matter Disease is greatly affected by the age of onset: antenatal onset will lead to death within a few months, while those presenting first symptoms in adulthood will have only mild neurological problems. Fatal infantile forms are also known as Cree Leukoencephalopathy, while juvenile and adult forms can be called Ovarioleukodystrophy.
Symptoms of the condition progress over time with periods of rapid deterioration caused by stressors such as infection and head trauma. Partial recovery from these episodes is possible; more severe episodes result in coma or death. Loss of motor skills is often the first noticeable symptom, perhaps triggered by one of these stressors. Chronic neurological deterioration follows, with cerebellar ataxia, spasticity and seizures. Those with Vanishing White Matter Disease may experience lethargy and some mental decline, as well as optic atrophy. Females may suffer from ovarian dysgenesis, which can cause fertility problems and early menopause.
Learn more about specific symptoms of this leukodystrophy in the pages listed here.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
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