Leukodystrophy
You don't need to be Editor-In-Chief to add or edit content to WikiDoc. You can begin to add to or edit text on this WikiDoc page by clicking on the edit button at the top of this page. Next enter or edit the information that you would like to appear here. Once you are done editing, scroll down and click the Save page button at the bottom of the page.
| Leukodystrophy Classification and external resources | |
| ICD-10 | E71.3, E75.2 |
|---|---|
| ICD-9 | 330.0 |
| DiseasesDB | 32504 |
Leukodystrophy refers to a group of disorders characterized by progressive degeneration of the white matter of the brain. The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different molecules. Each of the leukodystrophies is the result of a defect in the gene that controls the production or metabolism of one (and only one) of the component molecules of myelin.
The word leukodystrophy comes from the Greek roots leuko, white, dys, lack of, and troph, growth. Thus leukodystrophy describes a set of diseases that affect the growth or maintenance of the white matter.
Types
Specific leukodystrophies include (ICD-10 codes are provided where available):
- (E71.3) adrenoleukodystrophy
- (E75.2) metachromatic leukodystrophy
- (E75.2) Krabbe disease
- (E75.2) Pelizaeus-Merzbacher disease
- Canavan disease
- childhood ataxia with central hypomyelination (CACH or vanishing white matter disease)
- Alexander disease
- (G60.1) Refsum disease
- cerebrotendineous xanthomatosis
Cause
Leukodystrophies are mostly inherited disorders, meaning that it is passed on from parent to child. They may be inherited in a recessive, dominant, or X-linked manner, depending on the type of leukodystrophy. The individual pages on each leukodystrophy will describe the particular pattern of inheritance for that disease. There is also a separate fact sheet describing the different genetic inheritance patterns available from the United Leukodystrophy Foundation.
There are some leukodystrophies that do not appear to be inherited, but rather arise spontaneously. They are still caused by a mutation in a particular gene, but it just means that the mutation was not inherited. In this case, the birth of one child with the disease does not necessarily increase the likelihood of a second child having the disease.
Symptoms
The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.
Current research
One source of active (as of 2006) research is The Myelin Project
External links
- This article incorporates public domain text from the National Institute of Neurological Disorders and Stroke.
- The Stennis Foundation
- The Stennis Foundation's MySpace site
- Leukodystrophy Connections
- Joey Johnson's Story about DHA and Leukodystrophy
The official color of Leukodystrophies awareness is Navy Blue.
More information on the Leukodystrophies, and research being supported, can be found at The Stennis Foundation, located on the web at http://www.stennisfoundation.org, or http://www.myspace.com/stennisfoundation.de:Leukodystrophie fr:Leucodystrophie nl:Leukodystrofie
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
