Leukodystrophy
En Español (Spanish Version)

Definition
Leukodystrophy is a break down of a component of the nervous system called the myelin, which is a significant part of what makes the white matter of the brain. Myelin protects the part of the nerve that sends signals throughout the brain. The break down of myelin makes it difficult for the brain to send these signals. Leukodystrophy is a rare disease.

Types of leukodystrophies include:

  • Metachromatic leukodystrophy
  • Krabbé disease
  • Adrenoleukodystrophy
  • Adrenomyelopathy
  • Pelizaeus-Merzbacher disease
  • Canavan disease
  • Childhood ataxia with central nervous system hypomyelination (CACH), which is also called vanishing white matter disease
  • Alexander disease
  • Refsum disease
  • Cerebrotendinous xanthomatosis
Most leukodystrophies begin in infancy or childhood. However, there are several types that may not begin until adolescence or early adulthood.

Neuronal Axon With Myelin Sheath

Copyright © Nucleus Medical Media, Inc.

Causes
Leukodystrophy is caused by a genetic defect. This defect impairs the growth or development of the myelin. Each type of leukodystrophy is the result of a specific genetic defect. Most leukodystrophies are passed from parent to child, though some may develop in people without a family history.

Risk Factors
A family history of leukodystrophy may increase your chance of leukodystrophy.

Symptoms
Symptoms of leukodystrophy may include:

  • Gradual decline of the health of an infant or child who previously appeared well
  • Loss or increase in muscle tone
  • Change in movements
  • Seizures
  • Abnormal eye movements
  • Change in walking pattern
  • Loss of speech
  • Loss of the ability to eat
  • Loss of vision
  • Loss of hearing
  • Change in behavior
  • Slowdown of mental and physical development
Some leukodystrophies may involve other organ systems which can cause:

  • Blindness
  • Heart disease
  • Enlargement of the liver and spleen
  • Skeletal abnormalities, such as short stature, coarse facial appearance, and joint stiffness
  • Respiratory disease leading to breathing problems
  • Bronzing of the skin
  • Cholesterol nodules to form on tendons
Diagnosis
Your doctor will ask about your symptoms and medical history. A physical exam will be done.

Images of the brain may be taken. This can be done with:

Your bodily fluids and tissues may be tested. This can be done with:

Tests may be done on your nerves. This can be done with:

Treatment
Talk with your doctor about the best treatment plan for you. Treatment options include:

Management of Symptoms
Depending on the type of leukodystrophy and the symptoms, treatment may include:

  • Medications to reduce symptoms and relieve pain.
  • Physical, occupational, and/or speech therapy
  • Nutritional programs
  • Education
  • Recreational programs
Bone Marrow Transplant
In a few of the leukodystrophies, bone marrow transplant may help. It may be able to slow or stop the progression of the disease.

Enzyme Replacement Therapy
Replacement of the abnormal or absent enzyme is being explored for a few of the leukodystrophies. Research is being done in this area.

Talk to your doctor to find out what treatments may be right for you.

Prevention
There is no known way to prevent leukodystrophy. For parents who have had a child with leukodystrophy, genetic counseling may be helpful. This counseling will help to determine the chances of having another child with the disease.




RESOURCES:
National Institute of Neurological Disorders and Stroke

United Leukodystrophy Foundation

CANADIAN RESOURCES:
Bethany's Hope Foundation

Leukodystrophies Foundation

References:
Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch Neurol. 2007;64:651-657.

Lamari F, et al. Disorders of phospholipids, sphingolibids, and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit metab Dis. 2012. July 20.

Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm. Updated May 6, 2010. Accessed February 13, 2014.

Metachromatic leukodystrophy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed . Updated January 20, 2011. Accessed February 13, 2014.

Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy [review]. Nat Clin Pract Neurol. 2007;3:140-151.

Shimozawa N. Molecular and clinical aspects of peroxisomal diseases [review]. J Inherit Metab Dis. 2007;30:193-197.

What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy. Accessed February 13, 2014.

Last Reviewed February 2014



Health Information Library content is provided by EBSCO Publishing, fully accredited by URAC. URAC is an independent, nonprofit health care accrediting organization dedicated to promoting health care quality through accreditation, certification and commendation.

 

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

 

To send comments or feedback to EBSCO's Editorial Team regarding the content please e-mail healthlibrarysupport@ebscohost.com.