What is Leukodystrophy?

What is Leukodystrophy?

What is Leukodystrophy?

Leukodystrophy is not just a disease; it is actually a group of diseases that affect the central nervous system. Doctors are constantly discovering new forms of leukodystrophy, but there are currently 52 different types known to specialists.

Most leukodystrophies are genetic, meaning they are passed from parent to child. Sometimes symptoms appear in early childhood. But because the diseases are progressive, meaning they get worse over time, some babies born with a form of leukodystrophy may appear healthy.

Symptoms

The only thing that all leukodystrophies have in common is that they cause the abnormal development or destruction of the myelin sheath in the brain. It is a white fat that protects the nerves in the brain. Without it, your nervous system cannot function properly.

But each leukodystrophy affects myelin differently. This means that 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, as well as abnormally straight legs and bent arms. It may also include symptoms such as blindness and seizures.

Sometimes symptoms appear shortly after the baby is born, and sometimes even into adulthood. For example, signs of Refsum disease usually appear around age 20, but may occur before the age of 50. Some of the common symptoms include retinal degeneration, deafness, and loss of smell.

Although each leukodystrophy is different, the most common problem is that the child's health gradually deteriorates in one way or another, even if it seemed good at first. This may be a deterioration in their vision, hearing, speech, ability to eat, behavior or thoughts. Because symptoms can vary greatly, leukodystrophy can be difficult to diagnose.

Causes

Most leukodystrophies are hereditary, meaning they are passed down through family genes. Some of them may not be hereditary, but are always caused by a genetic mutation. One child in your family may have leukodystrophy and some may not.

For example, Alexander's disease is not inherited, so your child may have the defective gene even if neither you nor your partner has it.

If you have a child with leukodystrophy and plan to have more children, you may want to consider genetic counseling. This can help you understand your chances of having another child with leukodystrophy.

Diagnosis

Diagnosis of leukodystrophy can be difficult. Often doctors need to use more than one type of test, including:

  • Blood and urine analysis
  • Computerized tomography scans
  • Genetic testing
  • Magnetic resonance imaging scans
  • Psychological and cognitive tests

Treatment

There is no cure for most types of leukodystrophy. Treatment depends on the type, and doctors treat the symptoms of the disease with medications and special types of physical therapy, occupational therapy, and speech therapy. Some people may need extra 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 studying whether gene therapy or the replacement of certain enzymes can help treat certain types of leukodystrophy. 


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