Leukodystrophy refers to a group of rare genetic disorders affecting the central nervous system (CNS). The CNS includes the brain and spinal cord. The outlook for people with these disorders is typically poor, as symptoms worsen over time.

Leukodystrophy damages the brain’s white matter, which is made up of nerve fibers and a protective layer called the myelin sheath. Different types of genetic changes cause each type of leukodystrophy. The different disorders each affect specific areas of the myelin sheath and can lead to various neurological complications.

A person may inherit leukodystrophy, and it is typically progressive. There is no cure, meaning that the aim of treatment is usually to help manage symptoms.

This article examines the symptoms, causes, and risk factors for leukodystrophy. It also explains diagnosis, treatment, outlook, and how to find support.

Information for caregivers

As a person’s condition progresses, they may need help reading or understanding information regarding their circumstances. This article contains details that may help caregivers identify and monitor symptom progression, side effects of drugs, or other factors relating to the person’s condition.

Was this helpful?
Doctor looking at MRI scan on portable computer-1Share on Pinterest
Solskin/Getty Images

The symptoms of leukodystrophy can vary, depending on the type of the disorder.

A person may develop symptoms of some types shortly after birth. In other types, symptoms are more likely to develop later into childhood or adulthood.

A person with leukodystrophy might not develop certain skills or may gradually lose them. Those skills include:

According to the National Institute of Neurological Disorders and Stroke, the effects on the brain and spinal cord can cause symptoms such as:

Leukodystrophy refers to a group of genetic disorders that people may develop if they inherit specific gene changes from one or both of their biological parents.

The changed genes may affect the formation and functioning of certain proteins and lipids in the brain, leading to destruction or developmental differences in the brain’s white matter. This leads to impaired brain function.

Patterns of inheritance

Different types of leukodystrophy can occur depending on the pattern of inheritance.

A note about sex and gender

Sex and gender exist on spectrums. This article will use the terms “male,” “female,” or both to refer to sex assigned at birth. Click here to learn more.

Was this helpful?

Patterns of inheritance for genetic disorders include:

  • Dominant: In dominant genetic disorders, a person may inherit the atypical gene from either biological parent, and there is a 50% chance that the child will inherit the gene from the parent who carries it. One copy of the atypical gene is sufficient to cause a dominant genetic disorder.
  • Recessive: A recessive genetic disorder occurs when a person inherits a copy of an atypical gene from each parent. If both parents carry the atypical gene, there is a 25% chance the child will develop the genetic disorder.
  • X-linked: An X-linked genetic disorder can occur when a person inherits an atypical gene on the X chromosome. These disorders typically affect males. However, females can carry and pass on the atypical genes.

Learn more about genetic disorders.

Leukodystrophy refers to a group of genetic disorders, and people whose biological parents carry the genetic changes that cause them may inherit the disorders.

The likelihood of inheriting a leukodystrophy varies depending on whether one or both parents carry the atypical gene involved.

Some types of leukodystrophy are more common in males than females. Many types are more common in children than adults, although some can affect both groups.

There are more than 50 types of leukodystrophy, and each type may cause different symptoms. Because of the many variations of the disorder, it can be difficult for doctors to diagnose leukodystrophy.

To make a diagnosis, a doctor may:

  • ask about a person’s family medical history
  • perform physical and neurological examinations
  • order genetic testing to try to identify changes in genes that may cause leukodystrophy
  • order imaging tests such as CAT or MRI scans
  • order laboratory tests

There is no cure for leukodystrophy. Treatment for the disorders typically aims to help manage and relieve symptoms and provide support.

Treatment may include:

  • Medications: Doctors may prescribe medications to manage spasticity, seizures, and muscle tone.
  • Physical and occupational therapies: These therapies may help improve mobility, muscle tone, and balance.
  • Speech therapy: Speech therapy may help improve speech and thinking ability.
  • Educational and recreational programs: These programs may help support people with learning, behavioral, and cognitive disabilities. They may be helpful for some people with leukodystrophy.
  • Nutritional therapy: This type of therapy may help people who develop problems with eating and swallowing.
  • Stem cell transplantation: Stem cell or bone marrow transplantation may be helpful as a treatment for some types of leukodystrophy in the early stages of the disorder and may help slow further deterioration in the CNS.

Read about the CNS.

Leukodystrophy is progressive, which means the symptoms worsen over time. There is no cure for the disorders. A person’s outlook may vary depending on the type of disorder they have, but outlooks for people with leukodystrophy are typically poor.

Many types result in complications and death within a few years. The progression of certain types of the disorder may be slower and may cause death within 10–20 years of onset or longer.

Various supportive and informational resources are available for people with leukodystrophy and their loved ones. These include:

Below are the answers to some questions people commonly ask about leukodystrophy.

What triggers leukodystrophy?

Leukodystrophy occurs when a person inherits atypical genes that affect the brain’s white matter. These disorders can affect the brain’s ability to send and receive signals, resulting in progressively worsening symptoms.

What is the age of onset for leukodystrophy?

Infantile leukodystrophy occurs before the age of 3 years, juvenile leukodystrophy at age 3–16 years, and adult leukodystrophy after the age of 16 years.

Leukodystrophy is a group of progressive genetic disorders that cause destruction and developmental problems in the brain’s white matter. The disorders affect the myelin sheath, a protective layer that covers the nerves. This prevents the brain from functioning as usual.

The disorders can result in problems with mobility, thinking ability, vision, hearing, speech, and other functions. People can inherit the atypical genes that cause leukodystrophy from one or both biological parents.

The outlook for people with leukodystrophy is typically poor, as the disorders are progressive and there is no cure. Treatment for leukodystrophy usually aims to provide support and help manage symptoms.