Vanishing White Matter Disease (VWM)
Description
Vanishing white matter disease (VWM) is a rare, progressive neurological disorder that affects the white matter of the brain, which is responsible for communication between different areas of the brain. This condition can lead to a range of symptoms, including developmental delays, seizures, and movement problems. VWM is a serious condition, but early diagnosis and management can help improve quality of life for affected individuals.
Genes Involved
VWM is caused by mutations in genes that are involved in the production or function of myelin, a fatty substance that insulates nerve fibers in the brain. The most commonly affected genes include:
- **EIF2B1
- **EIF2B2
- **EIF2B3
- **EIF2B4
- **EIF2B5
Recognizing the Signs and Symptoms
The signs and symptoms of VWM vary widely depending on the severity and stage of the disease. Some common symptoms include:
- Developmental delays: Children with VWM may have delays in reaching developmental milestones, such as sitting, crawling, and walking.
- Seizures: Seizures are a common symptom of VWM, and they can range from mild to severe.
- Movement problems: As the disease progresses, individuals may experience difficulty with coordination, balance, and walking.
- Vision problems: Some individuals with VWM may experience vision loss or double vision.
- Cognitive decline: Cognitive abilities, such as memory, attention, and language, may decline over time.
- Behavioral changes: Changes in personality and behavior, such as irritability, aggression, and depression, can occur.
Causes
VWM is caused by genetic mutations that affect the production or function of myelin. Myelin is a fatty substance that insulates nerve fibers in the brain, allowing for efficient communication between different areas. When myelin is damaged or absent, nerve signals are disrupted, leading to the symptoms of VWM.
Inheritance/recurrence risk
VWM is typically inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for their child to inherit the disease. If both parents carry the mutated gene, there is a 25% chance that each child will inherit the disease. If only one parent carries the mutated gene, their children will not have the disease, but they will be carriers of the gene.
