Leukodystrophy describes a group of more than 50 inherited neurological disorders. These diseases affect myelin, the protective covering on nerve cells in the brain and spine. Leukodystrophies cause a progressive loss of neurological function in infants, children and sometimes adults. Leukodystrophies affect about 1 in 7,000 live births.
Leukodystrophies are a group of rare neurological (nervous system) diseases. They affect the white matter in the brain and spinal cord. White matter is tissue made of insulated nerve fibers.
Leukodystrophies target myelin, which is the protective insulation covering nerve cells. Without myelin, nerves can’t communicate well. Leukodystrophies lead to a progressive loss of neurological function. The brain and the body can’t receive signals from each other. These diseases are often fatal.
Researchers have identified more than 50 types of leukodystrophy. They’re still discovering new forms. Each form of leukodystrophy is the result of a different gene mutation (change) and causes different symptoms.
Leukodystrophies usually affect infants and young children. But some forms of the disease don’t cause symptoms until people are adults. Most leukodystrophies affect males and females equally. But some, such as Pelizaeus-Merzbacher disease, mostly appear in males. Some ethnicities have a higher risk for certain leukodystrophies.
Each type of leukodystrophy is rare. Together they affect about 1 in 7,000 live births.
Leukodystrophy is the result of changes (mutations) to genes. These genes control the growth or function of myelin. Without this protective covering, nerve cells don’t work correctly.
Most leukodystrophies come from parents passing the genes to their children (inherited). But sometimes gene mutations happen suddenly as cells grow and divide.
You can have a mutated leukodystrophy gene without developing the disease. This means you’re a carrier. Carriers can still pass the mutated genes on to their children.
The symptoms of leukodystrophy vary widely across the different disease types. But most forms of the disease result in gradual loss of neurological function. This means the body and brain have trouble talking to each other. Leukodystrophies can cause problems with:
Each type of leukodystrophy causes different symptoms. Some include:
Your healthcare provider:
Other tests may include:
Even with testing, leukodystrophy is difficult to diagnose due to the wide-ranging symptoms. Many leukodystrophies go undiagnosed.
There’s no cure for leukodystrophy. The following treatments may ease symptoms and preserve some neurological function:
A stem cell or bone marrow transplant may improve some types of leukodystrophy. Chenodeoxycholic acid (CDCA) replacement therapy can treat CTX if it’s diagnosed early. CTX is currently the only treatable form of leukodystrophy.
There’s no way to prevent leukodystrophy. Genetic testing can help determine your risk for passing the genes on to your children or grandchildren.
Leukodystrophies are progressive, so the neurological problems get worse over time. They’re usually fatal. Many children with leukodystrophy die before their teenage years. Some people survive into adulthood.
If you’re a carrier of a gene mutation that causes leukodystrophy, you may want to consider genetic counseling. A genetic counselor reviews your family history and helps you determine your risk of passing a mutated gene to your children or grandchildren.
A note from Cleveland Clinic
Leukodystrophies are rare, inherited neurological disorders. They affect myelin, the protective covering around nerve cells in the brain and spinal cord. Nerves can’t communicate well without myelin. Leukodystrophies cause a range of symptoms, including seizures and mental impairment. Therapies such as medication and rehabilitation can help ease symptoms. But there’s no cure for leukodystrophy. The condition is usually fatal.
Last reviewed by a Cleveland Clinic medical professional on 06/03/2021.
Learn more about our editorial process.