Leukodystrophy: Symptoms, Causes, Diagnosis, Treatment

Medically Reviewed by Dr. K on 13 May 2022

What Is Leukodystrophy?

Leukodystrophy is a term that applies to a group of disorders involving the central nervous system. Doctors are still researching new types of leukodystrophy, but there are already 52 types recognized by scientists.

The majority of leukodystrophies are hereditary, meaning they are passed on from one generation to the next. Symptoms may start as early as childhood in certain situations. However, since the disorders are chronic, meaning they become worse with time, certain children born with leukodystrophy can seem to be well.


The irregular growth or degradation of the brain's myelin sheath is a general characteristic of all leukodystrophies. That's the white fatty matter that shields the nerves in the brain. Your nervous system can not work properly without it.

However, myelin is affected differently by each leukodystrophy. As a result, children can face a variety of issues, including:

  • Balance and mobility difficulties
  • Behavioral and learning disabilities
  • Bladder issues
  • Breathing complications
  • Developmental delays
  • Hearing, speech, and vision problems
  • Muscle control disorders
  • Seizures

Canavan disease, one type of leukodystrophy, for example, causes decreased muscle tone, particularly in the stomach, as well as abnormally straight legs and flexed arms. Symptoms such as blindness and epilepsy are also likely.

Symptoms may appear shortly after an infant is born, or they may appear later in life. Refsum Disease symptoms, for example, normally appear about the age of 20 but may appear as late as age 50. Degeneration of the retina of the eye, deafness, and lack of smell are some of the more frequent signs.

Although each leukodystrophy is special, the most prevalent concern is a child's health steadily deteriorating in some manner, even though they seemed to be healthy at first. This may be a change in their vision, sight, voice, appetite, behavior, or thinking. Leukodystrophy is challenging to identify owing to the wide range of signs.


The bulk of leukodystrophies are hereditary, ensuring they are handed down through the centuries. Some hereditary mutations are not transmitted, but they are nevertheless the product of a genetic mutation. It's likely if one of the children has leukodystrophy and the rest do not.

Alexander syndrome, for example, does not seem to be hereditary, meaning your child may have a mutated gene even though neither you nor your husband has it.

If you have a child with leukodystrophy and plan to have more children, genetic testing will be helpful. It will assist you in assessing the probability of having another child with leukodystrophy.



Leukodystrophy may be challenging to diagnose. Doctors are often expected to use a variety of tests, including:

  • Blood tests
  • Urine analysis
  • Genetic testing
  • CT scans
  • MRI scans
  • Psychological and cognitive tests



Most forms of leukodystrophy may not have a treatment. It is treated differently depending on the type, and physicians treat the effects with drugs and specialized physical, occupational, and speech therapy. Any individuals may need extra assistance with learning or diet.

A bone marrow transplant may help delay or halt the development of the disease in certain circumstances. Scientists are now exploring whether gene therapy or the removal of particular enzymes will assist in the treatment of some forms of leukodystrophy.


Referenced on 2.3.2021:

  1. United Leukodystrophy Foundation: “What is Leukodystrophy?” “Canavan Disease,” “Refsum Disease,” “Alexander Disease.”
  2. National Organization for Rare Diseases: “Leukodystrophy.”
  3. National Institute of Neurological Disorders and Stroke: “NINDS Leukodystrophy Information Page.”
  4. Mount Sinai Hospital: “Leukodystrophy.”
  5. University of Utah Health Care: “What is Leukodystrophy?”
  6. Mayo Clinic: “Metachromatic leukodystrophy.”
  7. https://www.webmd.com/brain/leukodystrophy-types

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