Vanishing white matter disease (VWM) is a rare autosomal recessive leukodystrophy, which means both copies of the affected gene in each cell have mutations.
The parents of an individual with this disease usually each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Mutations in five different genes can result in VWM.
The classical form has onset during childhood years, with unsteady gait and muscle stiffness, while intellect is relatively preserved. The disease is progressive, however, meaning it will get worse with episodes of deterioration, which may include coma, precipitated by minor injuries, fever, or fright.
There is also a severe infantile form, known as Cree leukoencephalopathy, with an onset between 3 to 9 months, leading quickly to severe disability, seizures, and blindness, with death by 2 years.
The adolescent or adult form presents with slowly progressive unsteadiness and stiffness, with mild to moderately impaired mental capacity. Some adults may present with dementia and psychiatric symptoms. This disease is also sometimes associated with dysfunction of the ovaries in females.
There is no treatment available for this disorder. Recently, a mouse model was reported that can serve as a test bed for different therapeutics.
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Patients with this condition are treated at the Moser Center for Leukodystrophies at Kennedy Krieger Institute. The Center for Leukodystrophies provides an innovative model for comprehensive care for patients and families by bringing together the fields of neurogenetics, genetic counseling, neurorehabilitation, endocrinology, and urology, along with physical, occupational, speech and aquatic therapy.