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Leukodystrophy is the general name for a group of 50 genetic and inherited neurological disorders. Every form of the condition results from a different gene mutation, causing a variety of symptoms. While rare, leukodystrophy may lead to a shortened lifespan.

Testing for Leukodystrophies

Leukodystrophies are normally diagnosed in infants. Many states (including Nebraska) have newborn screenings for adrenoleukodystrophy (ALD), the most common form of the disease. However, it is important to note that there are varieties of the disease that don't show up until later in life.

In most cases, leukodystrophies are passed down from parents to children through their genes. Unfortunately, parents who are carriers may have the mutated leukodystrophy gene without knowing it, which is why requesting a test is recommended where it is available.

There are various means for detecting leukodystrophies, ranging from lab tests used to find enzyme deficiencies, to magnetic resonance imaging (MRI), which identifies problematic white matter in the brain.

One of the most effective ways to detect leukodystrophies is through genetic testing. Most tests involve a blood draw or a cheek swab, which a medical professional will examine in search of mutations associated with leukodystrophies in the DNA.

To decrease fear among indirectly affected family members, the physician may also suggest pregnant women in the family and additional family members be tested for leukodystrophy-related mutated genes.

Effects of Leukodystrophies

Leukodystrophies affect the myelin in white matter of the brain, spinal cord and the peripheral nerves. Myelin is the protective covering of the nerve cells that helps nerves communicate. When leukodystrophies are present, the brain and body can't communicate with each other.

Symptoms of Leukodystrophies

Leukodystrophies are degenerative conditions. Early symptoms include loss of cognitive function or motor function skills and seizures. As the disease progresses, the white matter myelin in the brain and spinal cord deteriorates, causing more acute symptoms.

Later symptoms can include:

  • Difficulty or inability to walk
  • Problems with eating and speech
  • Loss of vision and hearing
  • Mental and physical decline

Causes of Leukodystrophies

Since leukodystrophies are genetic, they are passed down from generation to generation, and there are no known external causes. There can be sporadic mutations, but the cause of these is currently unknown.

While many states have genetic testing for infants, others do not, which means parents need to watch for symptoms. Some patients don't show symptoms until their teen years or adulthood.

Treatment of Leukodystrophies

Some patients benefit from bone marrow or stem cell transplants if the disorder is discovered early enough. This cannot reverse the disease, but it can slow its progression.

Gene therapy will hopefully change the natural course and outlook of many leukodystrophies in the future, as long as they are identified early in the pre-symptomatic phase.

Mostly, people diagnosed with leukodystrophies are given ways to manage their symptoms, such as:

  • Seizure and spasm medication
  • Nutritional consultations
  • Physical, occupational and speech therapies
  • Home health equipment, as needed

Prognosis for Leukodystrophies

Unfortunately, science has not yet discovered a way to cure leukodystrophies. Life expectancy could vary depending on the type of leukodystrophy, but it often leads to a shortened lifespan.

If you get tested and carry the gene mutation that causes the disease, consider speaking with a genetic counselor.

Newborn Pediatric Neurology