Health A-Z

Leukodystrophy isn’t just one disease; it’s actually a group of diseases that affect the central nervous system. Doctors are discovering new forms of leukodystrophy all the time, but experts currently know of about 52 different kinds.

Most of the leukodystrophies are genetic, meaning they’re passed down from parent to child. Sometimes symptoms will show up early in childhood. But because the diseases are progressive, meaning they get worse over time, some children born with a form of leukodystrophy may seem fine.

Symptoms

The one thing all leukodystrophies have in common is they cause abnormal development or destruction of the brain’s myelin sheath. That’s the white fatty matter that protects the brain’s nerves. Without it, your nervous system can’t function properly.

But each leukodystrophy affects myelin differently. That means children can have many problems, including:

• Balance and mobility problems
• Behavioral and learning disabilities
• Bladder issues
• Breathing difficulties
• Developmental delays
• Hearing, speech, and vision problems
• Muscle control disorders
• Seizures

  For example, one type of leukodystrophy, Canavan disease, causes decreased muscle tone, especially in the neck, and abnormally straight legs and flexed arms. It can also include symptoms like blindness and seizures.

  Sometimes symptoms show up soon after a child is born, and sometimes as late as adulthood. Signs of Refsum Disease, for example, usually occur around age 20, but can be as late as age 50. Some of the common symptoms include degeneration of the retina in the eye, deafness, and loss of sense of smell.

  While every leukodystrophy is different, the most common problem is a child’s health gradually worsening in some way, even though they seemed fine to start with. This can be a worsening of their vision, hearing, speech, ability to eat, behavior, or thought. Since symptoms can vary so much, leukodystrophy can be hard to diagnose.

Treatment

There is no cure for most kinds of leukodystrophy. Treating it depends on the type, and doctors address the symptoms of the disease with medications and special kinds of physical, occupational, and speech therapy. Some people may need additional help with learning or nutrition.

In some cases, a bone marrow transplant can help by slowing or stopping the progression of the disease. Scientists are also researching whether gene therapy or replacing certain enzymes can help treat some kinds of leukodystrophy.

Diagnosis

Diagnosing leukodystrophy can be difficult. Oftentimes, doctors have to use several types of testing, including:

• Blood and urine analysis
• CT scans
• Genetic testing
• MRI scans
• Psychological and cognitive tests