Health Topic

Leukodystrophies

Leukodystrophies are rare diseases that affect the cells of the brain and are often genetic. Find more information on these progressive diseases.

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Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.

About 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.

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

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:

  • Learning disabilities
  • Bladder issues
  • Breathing problems
  • Developmental disabilities
  • Muscle control disorders
  • Seizures

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:

  • Physical and neurological exams
  • A medical history, including asking about family history
  • Imaging tests, such as an MRI or CT scan
  • Genetic testing to look for genetic changes that could cause leukodystrophies
  • Lab tests

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.

It sits within Brain and Nerves, Genetics/Birth Defects and Metabolic Problems.

The lead U.S. institute for this subject is the National Institute of Neurological Disorders and Stroke.

When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.

Research on Leukodystrophies

87 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.

What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.

Research currently under way

Research already completed

Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.

Where to read more

Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.

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Treatments and Therapies

Genetics

Clinical Trials

Medical subject headings

Clinicians and researchers index this subject under Leukodystrophy, Metachromatic, Canavan Disease, Leukodystrophy, Globoid Cell. These are the terms to use when searching medical literature.

This page is built from the MedlinePlus health topic record for Leukodystrophies, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.