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Leukodystrophy


WebMD Medical Reference
Medically Reviewed by Dr Rob Hicks

What is leukodystrophy?

Leukodystrophy describes a group of conditions causing a progressive loss of all neurological functions.

The conditions are rare and usually affect children.

The support group the Myelin Project says there are 36 known genetic demyelinating diseases, or leukodystrophies. These conditions affect people in different and debilitating ways and there is no current cure. Loss of myelin is also involved in multiple sclerosis, but in this case the loss is patchy and may recover.

Symptoms

Symptoms of leukodystrophy can affect a person's:

  • Speech
  • Memory
  • Movement
  • Sight
  • Hearing
  • Touch
  • Eating
  • Swallowing
  • Thinking and learning

Causes

Leukodystrophies can be inherited from parents or caused by genetic mutations.

Diagnosis

A doctor will begin to diagnose leukodystrophy based on the person's symptoms, family and medical history, and a physical examination.

Tests can help with diagnosis or to rule out other conditions causing similar symptoms. Tests that may be arranged include:

Treatment

Leukodystrophy cannot usually be cured but treatment may help manage specific symptoms.

This may include:

  • Medication
  • Physiotherapy
  • Occupational therapy
  • Speech and language therapy
  • Learning support
  • Nutritional help
  • Bone marrow transplants and other newer treatments may help slow progression of symptoms

What's the outlook for people with leukodystrophy?

Treatment for most types of leukodystrophy is about helping with symptoms and being supportive for the person with the condition and carers. Treatment may include medication, physiotherapy, occupational therapy, speech therapy, and nutritional, educational, and recreational programmes.

Reviewed on November 23, 2017

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