What Are Leukodystrophies?

The leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS), which consists of the brain and spinal cord. Some forms of leukodystrophy also affect the peripheral nervous system (the nerves) which connects the CNS to other parts of the body. In these disorders the growth and maintenance of a substance called myelin is impaired. Myelin acts like the insulation of an electrical wire. It helps nerve signals travel from one nerve cell (neuron) to the next, and from neurons to muscles.  As myelin is lost, the communication between neurons and muscle cells fails, impacting brain function and movement.


©2022 Ann & Robert H. Lurie Children’s Hospital of Chicago

Nerve cell (neuron) with healthy myelin can communicate with other neurons and muscles.


©2022 Ann & Robert H. Lurie Children’s Hospital of Chicago

In leukodystrophy, as myelin is lost, neurons and muscles cannot communicate well. This makes it harder for the brain and muscles to work together.

The most common leukodystrophies are metachromatic leukodystrophy, Krabbe disease, and X-linked adrenoleukodystrophy. However, more than 50 other types have been identified. Even so, many patients have forms of the disorder that are not yet classified and receive a diagnosis of Unspecified Leukodystrophy.

Most leukodystrophies are passed down (inherited) from parent to child. These disorders are progressive, and they tend to worsen throughout life.

Are Treatments Available for Leukodystrophy?

The specific treatment for leukodystrophy is dependent on the type of leukodystrophy a child may have. The majority of leukodystrophies do not have a cure, although research is ongoing. X-linked adrenoleukodystrophy (X-ALD) and Cerebrotendinous Xanthomatosis (CTX) are two leukodystrophies that are treatable if caught early. Symptoms of the disorders may be managed with medication and supportive care. Treatment may include physical, occupational, and speech therapies, as well as nutritional, educational and recreational programs. For some patients, bone marrow transplant may be a treatment option.

Lurie Children's is a Leukodystrophy Care Network (LCN) Certified Center, meeting or exceeding Criteria LCN Center Certification. Please see Leukodystrophy Care Program for more information about the comprehensive care that Lurie Children’s offers patients and their families.

Additional Resources for Information & Support

NORD (National Organization for Rare Disorders)

United Leukodystrophy Foundation

Hunter’s Hope

Leukodystrophy Family Forum


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