The Leukodystrophies are a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells.
Myelin, sometimes referred to as “white matter” because of its white, fatty appearance, protects and insulates nerve cells responsible for the rapid transmission of electrical signals between neurons. When that transmission is disrupted, it leads to a central nervous system that does not function properly.
In fact, the word Leukodystrophy comes from the Greek words Leuko (meaning white), trophy (meaning growth), and dys (meaning ill). Together, these words describe a set of diseases that affect the growth or maintenance of the white matter (myelin).