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NINDS Metachromatic Leukodystrophy Information Page




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What is Metachromatic Leukodystrophy?

Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies, which are characterized by the toxic buildup of lipids (fatty materials such as oils and waxes) and other storage materials in cells in the white matter of the central nervous system and peripheral nerves.  The buildup of storage materials impairs the 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 a mixture of fats and proteins.)  MLD is one of several lipid storage diseases, which result in the harmful buildup of lipids in brain cells and other cells and tissues in the body.  People with lipid storage diseases either do not produce enough of one of the enzymes needed to break down (metabolize) lipids or they produce enzymes that do not work properly.  Some leukodystrophies are caused by genetic defects of enzymes that regulate the metabolism of fats needed in myelin synthesis.  MLD, which affects males and females, is cause by a deficiency of the enzyme arylsulfatase A.  MLD has three characteristic forms: late infantile, juvenile, and adult. Late infantile MLD typically begins between 12 and 20 months following birth.  Infants appear normal at first but develop difficulty walking after the first year of life and eventually lose the ability to walk.  Other symptoms include muscle wasting and weakness,developmental delays, progressive loss of vision leading to blindness, impaired swallowing, and dementia before age 2. Most children with this form of MLD die by age 5. Symptoms of the juvenile form of MLD (which begins between 3-10 years of age) include impaired school performance, mental deterioration, an inability to control movements, seizures, and dementia.  Symptoms continue to get worse, and death eventually occurs 10 to  20 years following disease onset..   The adult form commonly begins after age 16, with symptoms that include psychiatric disturbances, seizures, tremor, impaired concentration, depression, and dementia.  Death generally occurs within 6 to 14 years after onset of symptoms.

Is there any treatment?

There is no cure for MLD.  Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials.

What is the prognosis?

The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset.  Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms.

What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world.  Research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  NINDS-funded preclinical research aims to study the effectiveness and safety of virus-based delivery of the normal ARSA gene to promote gene expression throughout the central nervous system and overcome the mutation-caused deficiency.  If successful, the project could lead to trials in humans.  Other research hopes to study the use of patient-specific induced pluripotent stem cells (cells that are capable of becoming other types of cells)  in correcting the gene deficiency in metachromatic leukodystrophy.

NIH Patient Recruitment for Metachromatic Leukodystrophy Clinical Trials

Organizations

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The Arc of the United States
1825 K Street, NW
Suite 1200
Washington, DC 20006
Info@thearc.org
http://www.thearc.org
Tel: 202-534-3700; 800-433-5255
Fax: 202-534-3731

Myelin Project
P.O. Box 39
Pacific Palisades, CA 90272
info@myelin.org
http://www.myelin.org
Tel: 800-869-3546; 310-459-1071
Fax: 310-230-4298

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)
Fax: 203-798-2291

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
info@ntsad.org
http://www.ntsad.org
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134

United Leukodystrophy Foundation
224 North 2nd Street, Suite 2
DeKalb, IL 60115
office@ulf.org
http://www.ulf.org
Tel: 815-748-3211; 800-728-5483
Fax: 815-748-0844

MLD Foundation
21345 Miles Drive
West Linn, OR 97068
info@MLDFoundation.org
http://www.mldfoundation.org
Tel: 800-617-8387; 503-656-4808



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last Modified February 22, 2016