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Term / Leukodystrophy

Leukodystrophy refers to a group of more than 15 rare genetic disorders that disrupt growth and development of the myelin sheath, a fatty covering that insulates nerve cells in the brain and spinal cord and helps them transmit electric signals. Damage to this insulation slows down or blocks messages between the brain and the rest of the body. Without myelin, nerve cells cease to function and eventually die. The leukodystrophies are often referred to as demyelinating diseases.

The most common symptom of a leukodystrophy is the gradual decline of an infant or child who previously appeared well. Symptoms vary according to the specific type of leukodystrophy, but nearly all include a slowdown in mental and physical development. It may be difficult to recognize and diagnose children in the early stages of disease.

Bone marrow transplantation has been shown to be successful in treating adrenoleukodystrophy, or ALD (ALD is the disease described in the book and 1992 Academy Award-nominated movie Lorenzo’s Oil), and is currently being researched as a treatment for others. ALD occurs in one in every 40,000 male births. The most common leukodystrophies include:

  • Adrenoleukodystrophy
  • Canavan Disease
  • Krabbe Disease
  • Metachromatic Leukodystrophy (MLD)
  • Childhood Ataxia with Central Nervous System Hypomyelination (CACH)
  • Alexander Disease
  • Refsum Disease
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