Also known as: inherited leukoencephalopathies, hereditary white matter disorder
What is leukodystrophy?
Leukodystrophy refers to a large (more than 50), group of rare progressive diseases that affect the white matter of the brain (myelin). These conditions cause damage to the myelin sheath which slows or blocks messages between the brain and the rest of the body. There are a number of types including; Canavan disease, Krabbe disease, Niemann-Pick disease, and many others.
What causes leukodystrophy?
Genetic mutations appear to cause most leukodystrophies; they may be sporadic (not inherited from a parent) or hereditary disorders that can be passed along from parents to their children.
What are the symptoms of leukodystrophy?
Most symptoms usually appear during infancy or childhood but can start later. Early symptoms vary widely; common ones include loss of skills previously present, difficulty with walking/balance and mobility, cognitive decline, behavior and learning difficulties, bladder problems, seizures, and others.
Later symptoms include abnormal movements, changes in muscle tone, difficulties with eating and speaking, poor sight or hearing and declines in mental and physical development, depending on the nature and the area of the brain involved.
What are leukodystrophy care options?
Early diagnosis may enhance the chance for bone marrow or stem cell transplantation which when present damage, cannot be reversed; future damage caused by the disease however may be slowed. Other treatments are focused on managing the symptoms and supporting families; these include physical, occupational and speech therapy, learning support, nutrition management, medications for spasticity, seizures and other potential treatments.
This page was last updated on: September 09, 2020 11:23 AM
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