Leukodystrophy is a progressive degeneration of the fatty covering (myelin) that protects nerve cells and helps transmit nervous system signals. This damage results in problems with the patient’s nervous system and can lead to a gradual and progressive deterioration of movement, mental abilities, speech, vision and other mental and physical functions. Leukodystrophy most often develops early in life and some types may be fatal.

Dozens of types of leukodystrophies have been identified, and more are being discovered all the time. All types of leukodystrophies are caused by genetic defects that affect how myelin is produced and maintained. Most of these conditions are inherited.

The diagnostic technique for leukodystrophy depends on the type that is suspected. Because many forms of leukodystrophy are inherited, a family history of the disease in addition to signs and symptoms is sometimes an indicator of leukodystrophy. Blood testing, skin biopsies and imaging tests are also used to diagnose a leukodystrophy.

There is no cure for leukodystrophy. Treatment focuses on supporting the patient and trying to relieve symptoms as completely as possible. Bone marrow transplantation may be recommended for some leukodystrophies. Medications, surgeries and various forms of therapy can also enhance a patient’s quality of life.