Here you’ll find answers to some of the questions that parents often have about this condition. Additional resources are listed at the bottom of the page. Diagnosis and management information can be found in the Leukodystrophies module, which is written for primary care clinicians but also may be of help to parents and family members.

What is leukodystrophy and what causes it?

The leukodystrophies are a group of inherited conditions in which the white matter of the brain is abnormal due to altered development of, a decreased amount of, or degeneration of the myelin sheath, the lipid covering around neuronal processes in the brain. A specific genetic or metabolic defect can be identified for about 50% of children with a leukodystrophy. Leukodystrophies comprise more than 40 conditions. A full list of known leukodystrophies can be found at Known Leukodystrophies (ULF).

What are the symptoms of leukodystrophy?

Symptoms vary among these conditions and many have different forms based on the age of presentation and severity. Most present with a decline in achievement of developmental milestones during infancy or toddlerhood or a decline in cognitive and motor abilities during childhood. For some, presentation occurs in adults. Some children with leukodystrophies are presumed to have cerebral palsy, a static process due to brain injury in prenatal development or within the first year of life, but are later found to have a leukodystrophy. This diagnosis should be considered in any child who stops meeting developmental milestones, the most common presentation, or shows a global regression.

How it is diagnosed?

The initial diagnosis is made by brain MRI that demonstrates white matter abnormalities consistent with a leukodystrophy. Further testing is then usually needed to diagnose the specific form of leukodystrophy.

What is the prognosis?

Outcomes vary by condition but, with some leukodystrophies, there is progressive deterioration in neurologic function. In general, leukodystrophies are severe diseases - only 51% of children in a large cohort walked, and only 28% achieved the ability to track visually. [Bonkowsky: 2010] In a few leukodystrophies, primary disease manifestations can be prevented by hematopoietic stem cell transplantation (bone marrow transplantation) early in the disease course. [Pagon: 2014]

What is the risk for other family members or future babies?

If family members older than your child with leukodystrophy aren't showing signs or symptoms of the disease, it is unlikely that they have leukodystrophy, although if you have a baby younger than the child with this condition, you should ask your primary care clinician about his or her risk. For future babies, although most leukodystrophies are inherited in an X-linked, recessive, or dominant form, some may occur spontaneously. You should ask your child's primary care clinician about how likely it is for you to have another child with leukodystrophy.

What treatments/therapies/medications are recommended or available?

Current treatment for most leukodystrophies is supportive. For a few of the types of leukodystrophy, bone marrow transplantation may be available.

How will my child and our family be impacted?

Most children with leukodystrophy will have significant problems with walking, talking, and activities of daily living. Some children with leukodystrophy will have a progressive downhill course in their abilities and will have a shortened life span. We encourage you to discuss your child's prognosis with your primary care clinician. Because children with leukodystrophy usually have significant medical problems, the impact on the family will be significant. A support group (see below) may be extremely helpful for you and your family.

My child has an unknown type of leukodystrophy and I am pregnant with another child. What are the chances that this child will also have the leukodystrophy?

Since the type of leukodystrophy isn't known, it is impossible to predict the chances of your next child having the same condition. Probabilities range from a 1 in 2 chance if the leukodystrophy is autosomal dominant to almost 0 if the leukodystrophy was sporadic.


Information & Support

Where can I go for further information?

For Parents and Patients


United Leukodystrophy Foundation Support Community
An online support community providing opportunities to connect with other families of children with leukodystrophies; free sign-up required.

Metachromatic Leukodystrophy (MLD Foundation)
Provides information and support to families of children diagnosed with metachromatic leukodystrophy.


Leukodystrophies (MedlinePlus)
Offers a brief description of leukodystrophies and numerous links to general information about specific leukodystrophies; from the National Library of Medicine.

Leukodystrophy, Frequently Asked Questions (ULF)
Answers to frequently asked questions about leukodystrophies; United Leukodystrophy Foundation.

United Leukodystrophy Foundation (ULF)
Non-profit organization that offers information, lists of resources, and notices of conferences and other events.

Known Leukodystrophies (ULF)
A listing of known leukodystrophies, many with links to additional information; United Leukodystrophy Foundation.

Leukodystrophies (Genetics Home Reference)
A list of leukodystrophies with links to a detailed review of the specific condition; sponsored by the U.S. National Library of Medicine.

Leukodystrophy Information Page (NINDS)
Contains a brief overview and links to clinical trials and other organizations; National Institute of Neurological Disorders and Stroke.

Leukodystrophy (NORD)
Overview of information on leukodystrophy. If registered, you will have access to detailed reports (a limited number of reports are free to those who register); National Organization for Rare Disorders.

Services in Nevada

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Adolescent Health Transition Programs

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Assistive Technology Equipment

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CHIP, State Children's Health Insur Prog

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CSHCN Clinics

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Childcare, Special Needs

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Disability Related Sports

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Early Intervention for Children with Disabilities/Delays

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Prescription Drug Patient Assistance Programs

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Public Special Schools

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State Institutions for Individuals with Disabilities

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Wish Foundations

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For other services related to this condition, browse our Services categories or search our database.

Authors & Reviewers

Initial publication: October 2012; last update/revision: November 2015
Current Authors and Reviewers:
Author: Lynne M. Kerr, MD, PhD
Reviewers: Joshua Bonkowsky, MD, Ph.D.
Meghan Candee, MD

Page Bibliography

Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R.
The burden of inherited leukodystrophies in children.
Neurology. 2010;75(8):718-25. PubMed abstract / Full Text

Pagon RA, Adam MP, Ardinger HH, et al.
Leukodystrophy Overview.
GeneReviews® ; (2014) Accessed on October 2015.