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Living with Leukodystrophy

A group of inherited conditions that affect the brain's white matter and nerves, often showing as a loss of skills in a child.

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Understanding Leukodystrophy

Leukodystrophy is a group of rare genetic disorders that affect the brain, spinal cord, and other nerves.

They are caused by damage to the white matter of the brain, because of problems with myelin, the fatty covering that protects nerves. They tend to get worse with time. The most common sign is a decline in skills in an infant or child who seemed healthy before. This may show in muscle tone, movement, walking, speech, eating, vision, hearing, and behavior.

Signs & symptoms

GARD doesn't list a symptom list for this condition. Its summary describes these changes in a child who was healthy before:

  • Changes in muscle tone
  • Changes in movement and walking
  • Changes in speech
  • Trouble eating
  • Changes in vision and hearing
  • Changes in behavior

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    ALD Alliance, Global DARE Foundation and Sisters' Hope Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
Expert care
Expert lists: ALD Alliance, Global DARE Foundation, Sisters' Hope Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with ALD Alliance and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Which type of leukodystrophy does my child have?
Would genetic testing help confirm the type?
Which specialists and therapies can help with movement, feeding, and speech?

Quick facts

It is caused by changes in genes involved in making myelin. GARD names several specific types, such as metachromatic leukodystrophy, Krabbe disease, and Alexander disease.

GeneticNeurological

Also known as: degeneration of white matter of brain; hld; hypomyelinating leukodystrophy

Patient organizations

Source: NIH GARD · LeukodystrophyGARD ID 6895 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Leukodystrophy.

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Explore research for Leukodystrophy

Explore actively recruiting Leukodystrophy studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Leukodystrophy with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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