Munson Health
 
Leukodystrophy

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by McCoy K
 

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:
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
AX00010 97870 1 myelin sheath
Copyright © Nucleus Medical Media, Inc.
 

Symptoms

Symptoms of leukodystrophy may include:
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.
Talk to your doctor to find out what treatments may be right for you.
 

RESOURCES

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

United Leukodystrophy Foundation
http://www.ulf.org

 

CANADIAN RESOURCES

Bethany's Hope Foundation
http://www.bethanyshope.org

Leukodystrophies Foundation
http://www.leukofoundation.com

 

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.

 

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