Leukodystrophies are a group of rare, genetic disorders that affect the white matter of the brain. The word leukodystrophy comes from leuko, which means white, and dystrophy, which means imperfect growth. Leukodystrophies are characterized by this abnormal growth of white matter in the brain. Specifically, these diseases damage the brain’s myelin sheath, which acts as an insulator around nerve fibers in the brain and spinal cord.

Damage to the myelin sheath slows down or blocks messages between the brain and the rest of the body and can cause problems with:

  • Movement
  • Speaking
  • Vision
  • Hearing
  • Mental and physical development

Currently, there are more than 50 identified Leukodystrophies, although nearly half of patients with Leukodystrophy still remain unclassified. This list has grown significantly in the last ten years. As research advances, scientists will continue to discover and classify new variations in this family of diseases.   Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.

Alone, each Leukodystrophy may be considered rare, but as a group, these diseases affect approximately 1 in 7,000 individuals.

Most leukodystrophies are neuro-degenerative. This means that in time, if left untreated, the diseases progress, causing more destruction to the white matter and worsening symptoms.  However, there are many ways to help manage the symptoms and help patients live their best quality of life.