CONTENTS

Home

Background

What is MLD?

          Patterns of Inheritance          

Diagnosis

Clinical Presentation
and Course

Treatment

Research

What is Metachromatic Leukodystrophy?

A brief overview...

        Metachromatic Leukodystrophy (MLD) is one of a group of genetic disorders called "the leukodystrophies." It is a rare autosomal-recessively inherited metabolic disease, that affects the growth of myelin along axons in the nervous system. MLD attacks the white matter of the brain, spinal cord, and peripheral nerves via a deficiency of the Arylsulfatase A gene, which is located near the end of the long arm of chromosome 22. Such a deficiency allows certain specialized lipids (called sulfatides) to accumulate in nerve tissues instead of it being broken down. The failure of these sulfatides to break down interrupts the course of normal myelin maintenance and replacement. Axons become unable to repair their insulating sheaths and eventually demyelinate. Psychological disturbances, mental deterioration, sensory malfunctions, and motor impairments all result from its damage to the nervous system.  

    Three forms of this disease have been identified: late infantile, juvenile, and adult onset. Currently there is no cure for MLD, however certain treatments may delay the disease's progression. Because of this, the prognosis for MLD is very poor, and death usually occurs within 2 to 14 years after onset of symptoms, depending on the form.

More information is provided through the links to your left.

[ Background ] [ What is MLD? ] [ Patterns of Inheritance ] [ Diagnosis ] [ Presentation and Course ] [ Treatment ] [ Research Models ] [ References ]

Davidson College Home Page  | Davidson College Neuroscience Home Page | Search Davidson | E-mail the Neuroscience Program

The full-version of this site is best viewed on Microsoft Internet Explorer.
©2001 Created by Christopher K. Craig