Leukodystrophies are rare, genetic conditions that affect the white matter in your brain and/or spinal cord. White matter is the protective membrane around the nerves in your brain and spine that allow for quick transmission of information.  Genetic defects in the white matter can cause problems with your vision, hearing, speaking, movement and overall neurological development. They most often affect children but can also impact adults.

Symptoms of a leukodystrophy vary depending on the condition type you have. Most types cause a gradual loss of neurological function. This can affect your vision, hearing, speaking and movement.

Common Symptoms 

Signs of leukodystrophy may include:

• Developmental regression
• Loss of muscle strength, with later increases in loss of muscle tone
• Balance issues if the cerebellum is involved
• Difficulty walking
• Speech problems
• Vision issues
• Problems with eating and swallowing
• Difficulty hearing
• Bladder issues
• Learning disabilities
• Trouble breathing
• Developmental delays
• Muscle control disorders
• Seizures

Leukodystrophies are usually the result of gene mutations passed down from your parents. Sometimes, however, these mutations occur randomly.

We ask about the symptoms you have and perform a physical and neurological exam to diagnose a leukodystrophy. We also take your medical history, including your family history.

If we think you may have a leukodystrophy, we may order tests, such as:  

• Imaging tests, like an MRI, to look at the white matter in your brain and spinal cord. 
• Genetic tests to check for pathogenic gene variant (formally referred to as mutations). 

Most leukodystrophies cannot be cured. However, we can help you manage the symptoms with treatments such as: