What is Vwm disease?

Vanishing white matter (VWM) disease is an inherited condition caused by a faulty gene. Children with VWM disease have a defective protein that prevents the body from making enough myelin, a white, fatty substance that insulates nerve fibers, protecting them from damage.

How long can you live with leukodystrophy?

Children diagnosed with late infantile MLD typically live another five to 10 years. 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.

Is leukodystrophy a neurodegenerative disorder?

First and foremost, leukodystrophy is a neurodegenerative disease that is always the result of both impairment and maintenance of myelin sheaths surrounding neuronal axons in the central nervous system as the result of a genetic mutation.

How rare is vanishing white matter disease?

The prevalence of leukoencephalopathy with vanishing white matter is unknown. Although it is a rare disorder, it is believed to be one of the most common inherited diseases that affect the white matter.

How does vanishing white matter disease ( VWM ) work?

Vanishing white matter (VWM) disease is an inherited condition caused by a faulty gene. Children with VWM disease have a defective protein that prevents the body from making enough myelin, a white, fatty substance that insulates nerve fibers, protecting them from damage.

Why are so many people misdiagnosed with VWM?

Often with VWM, the lack of knowledge of the disease causes a misdiagnosis among physicians. As VWM is a member of the large group of leukodystrophy syndromes, it is often misdiagnosed as another type such as metachromatic leukodystrophy. More often than not, it is simply classified as a non-specific leukodystrophy.

What are the signs and symptoms of VWM?

A striking feature of VWM is that in addition to a generally slow progression of symptoms, patients may show episodes of rapid neurological deterioration in response to certain stressors, such as infection or minor head trauma.

Is there a cure or treatment for VWM?

VWM is chronic and progressive, and is unusual in that periods of rapid and severe deterioration can be caused by minor head trauma, fevers and even anesthesia. Although there is currently no cure for VWM, it is treatable. With proactive, comprehensive medical care the symptoms of VWM can be well-managed…