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Leukodystrophies | MedlinePlus

Leukodystrophies | MedlinePlus

What are leukodystrophies?

Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes

  • Nerve fibers, also called axons, which connect your nerve cells
  • Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells.

When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking.

There are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time.

What causes leukodystrophies?

Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child.

What are the symptoms of leukodystrophies?

The symptoms of leukodystrophies depend on the type; they can include a gradual loss of

  • Muscle tone
  • balance and mobility
  • Walking
  • Speech
  • Ability to eat
  • Vision
  • Hearing
  • Behavior

There can also be other symptoms, such as

How are leukodystrophies diagnosed?

Leukodystrophies can be hard to diagnose because there are so many different types which can have different symptoms. Your health care provider may use many tools to make a diagnosis:

What are the treatments for leukodystrophies?

There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include

  • Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)
  • Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems
  • Nutritional therapy for eating and swallowing problems
  • Educational and recreational programs

Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.

One type of leukodystrophy, CTX, is treatable if it is diagnosed early. It is treated with chenodeoxycholic acid (CDCA) replacement therapy.

NIH: National Institute of Neurological Disorders and Stroke



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Tags #Disorders and Conditions #Genetics/Birth Defects

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