What is Leukodystrophy?

Leukodystrophy is a group of inherited disorders that are characterized by the degeneration of white matter in the brain. These disorders are a result of imperfect growth or development of the myelin sheath which impacts the central and peripheral nervous systems.

Myelin is a white fatty material that enclose the axons on nerve fibers. The nervous system that controls our ability to think, see, hear, speak, feel, move, etc. is built up of neurons (nerve cells that consist of a cell body, dendrites, and an axon). Myelin acts much like the protective coating on an electric wire by insulating and protecting the axon. This is critical for the nervous system to function properly as it allows for efficient transmission of electrical signals between neurons. As myelin breaks down, so does signal transmission in the nervous system leading to a progressive decline in mental and physical ability.

There are currently 40 known forms of Leukodystrophy. Each is common in that they result in insufficient development or maintenance of the myelin sheath. Many genes are responsible for different pieces of this process, and the specific gene that is mutated is what distinguishes the Leukodsytrophies from one another.

Visit the United Leukodystrophy Foundation for the full list of known Leukodsytrophies and available fact sheets.

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