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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Metachromatic leukodystrophy


Other Names for this Disease
  • ARSA deficiency
  • Arylsulfatase A deficiency
  • Cerebral sclerosis diffuse metachromatic form
  • Cerebroside sulfatase deficiency
  • Leukodystrophy metachromatic
More Names
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Your Question

We found out my cousin has metachromatic leukodystrophy about 8 months ago. He has the adult form. He was having some problems about a year before we found out. I was wondering how long he might have to live and how bad the disease will get over time.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the prognosis for individuals with metachromatic leukodystrophy?

The prognosis for metachromatic leukodystrophy (MLD) is poor.[1] The late infantile form of the disorder, the most common type, usually appears in the second year of life. This form typically progresses over approximately 5 to 10 years.[2] Most children with the infantile form die by age 5.[1] The juvenile form, with onset between the age of 4 and adolescence, has a slower progression than the late infantile form and symptoms may develop over 10 to 20 years; death typically occurs 10 to 20 years following onset.[1][2] In the adult form, the first symptoms typically appear during the teenage years or later. This form may possibly progress over 20 to 30 years, although many individuals with the adult form die within 6 to 14 years following the onset of symptoms.[1][2] During the progression of this form there may be some periods of relative stability and other periods of more rapid decline.[2]
Last updated: 5/9/2012

References