NINDS Metachromatic Leukodystrophy Information Page: NINDS


Article title: NINDS Metachromatic Leukodystrophy Information Page: NINDS
Main condition: Metachromatic Leukodystrophy
Conditions: Metachromatic Leukodystrophy
What is Metachromatic Leukodystrophy?
Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -which acts as an insulator - on nerve fibers in the brain. There are three forms of MLD: late infantile, juvenile, and adult. In the late infantile form, which is the most common, onset of symptoms begins between ages 6 months and 2 years. The infant is usually normal at birth, but eventually loses previously gained abilities. Symptoms include hypotonia (low muscle tone), speech abnormalities, loss of mental abilities, blindness, rigidity (uncontrolled muscle tightness), convulsions, impaired swallowing, paralysis, and dementia. Symptoms of the juvenile form begin between ages 4 and 14, and include impaired school performance, mental deterioration, ataxia, seizures, and dementia. In the adult form, symptoms, which begin after age 16, may include impaired concentration, depression, psychiatric disturbances, ataxia, tremor, and dementia. Seizures may occur in the adult form, but are less common than in the other forms. In all three forms mental deterioration is usually the first sign.

Is there any treatment?
There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some cases. Other treatment is symptomatic and supportive.

What is the prognosis?
The prognosis for MLD is poor. Death generally occurs within 6 to 14 years after onset of symptoms. In the infantile form death may occur between 3 and 6 years after onset.

What research is being done?
The NINDS supports research on genetic disorders including leukodystrophies such as MLD. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.

Selected references

Baumann, N, et al.
Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach Developmental Neuroscience, 13; 211-215 (1991)

Bradley, W, et al (eds).
Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1555-1556, 1910 (1996)

Menkes, J.
The Leukodystrophies The New England Journal of Medicine, 322:1; 54-55 (January 4, 1990)

Rowland, L (ed).
Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 558-560 (1995)

Wenger, D.
Research Update on Lysosomal Disorders with Special Emphasis on Metachromatic Leukodystrophy and Krabbe Disease APMIS, Suppl 40:101; 81-87 (1993)

Wyngaarden, J, et al (eds).
Cecil Textbook of Medicine 19th edition, W.B. Saunders Co., Philadelphia, pp. 2200-2201 (1992)


National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
Tel: 815-895-3211 800-728-5483
Fax: 815-895-2432

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

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