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$Unique_ID{BRK03938}
$Pretitle{}
$Title{Leukodystrophy, Metachromatic}
$Subject{Leukodystrophy, Metachromatic MLD Arylsulfatase A Deficiency ARSA
Metachromatic Form of Diffuse Cerebral Sclerosis Diffuse Cerebral Sclerosis
Cerebroside Sulfatase Deficiency Greenfield Disease Leukoencephalopathy
Metachromatic Leukoencephalopathy Sulfatide Lipidosis Sulfatidosis Late
Infantile Metachromatic Leukodystrophy Juvenile MLD Juvenile Onset
Metachromatic Leukodystrophy Adult Metachromatic Leukodystrophy Metachromatic
Leukodystrophy Cerebroside Sulfatase Activator}
$Volume{}
$Log{}
Copyright (C) 1986, 1987, 1988 National Organization for Rare Disorders, Inc.
212:
Leukodystrophy, Metachromatic
** IMPORTANT **
It is possible the main title of the article (Metachromatic
Leukodystrophy) is not the name you expected. Please check the SYNONYMS
listing to find the alternate names and disorder subdivisions covered by this
article.
Synonyms
MLD
Arylsulfatase A Deficiency
ARSA
Metachromatic Form of Diffuse Cerebral Sclerosis
Diffuse Cerebral Sclerosis
Cerebroside Sulfatase Deficiency
Greenfield Disease
Leukoencephalopathy
Metachromatic Leukoencephalopathy
Sulfatide Lipidosis
Sulfatidosis
DISORDER SUBDIVISIONS
Late Infantile Metachromatic Leukodystrophy
Juvenile MLD, also known as Juvenile Onset Metachromatic Leukodystrophy
Adult Metachromatic Leukodystrophy
Metachromatic Leukodystrophy Due to Lack of Cerebroside Sulfatase
Activator
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Metachromatic Leukodystrophy (MLD) is an autosomal recessive inherited
disease which affects the brain and spinal cord. The disease is
characterized by progressive paralysis and dementia. It appears in the
following forms:
(Late) Infantile Metachromatic Leukodystrophy
Onset of this form of the disorder is usually in the second year of life.
Clinical features are motor impairment, rigidity, mental deterioration and
sometimes convulsions.
Juvenile Metachromatic Leukodystrophy
Onset of Juvenile MLD occurs between the ages of 4 and 10 years.
Adult Metachromatic Leukodystrophy
Onset of this form of MLD occurs after 16 years of age. Dystonia
(abnormal muscle tone) and impaired articulation or stuttering (dysarthria)
is a symptom of Adult MLD.
Metachromatic Leukodystrophy Due to Deficiency of Cerebroside Sulfatase
Activator
The clinical picture for this type of Leukodystrophy is the same as
Juvenile MLD.
Symptoms
The manifestations of Metachromatic Leukodystrophy (MLD) usually begin
gradually in a child or adult who previously has appeared healthy. Most
commonly, some subtle change in the patient's thought processes, memory,
behavior, or gait will be noticeable. Sometimes a disturbance in vision, or
less commonly in hearing, or numbness in parts of the body may be the first
symptom.
Often in the early stages of the disorder, the signs and symptoms of
Metachromatic Leukodystrophy are vague and difficult to recognize or diagnose.
Causes
Metachromatic Leukodystrophy (MLD) is an autosomal recessive inherited
disorder caused by a deficiency in the enzyme arylsulfatase A. Arylsulfatase
A is an enzyme which acts on the sulfatide of the fatty white sheath (myelin)
of the nerve cells in the brain and the spinal cord. (Human traits including
the classic genetic diseases, are the product of the interaction of two genes
for that condition, one received from the father and one from the mother. In
recessive disorders, the condition does not appear unless a person inherits
the same defective gene from each parent. If one receives one normal gene
and one gene for the disease, the person will be a carrier for the disease,
but usually will show no symptoms. The risk of transmitting the disease to
the children of a couple, both of whom are carriers for a recessive disorder,
is twenty-five percent. Fifty percent of their children will be carriers,
but healthy as described above. Twenty-five percent of their children will
receive both normal genes, one from each parent and will be genetically
normal.)
Affected Population
Metachromatic Leukodystrophy affects persons of both sexes and all
nationalities.
Related Disorders
Amaurotic Familial Idiocy (Tay-Sachs disease) is a genetic Disorder
occurring in children which causes progressive deterioration of the central
nervous system. It is generally found among children with Jewish heritage
and becomes clinically evident at about 6 months of age. Sandhoff Disease, a
variant of Tay-Sachs Disease, is clinically indistinguishable from the more
common form of Tay-Sachs Disease, but occurs in the general population.
(For more information on the above disorders, choose "Tay-Sachs" and
"Sandhoff" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Metachromatic Leukodystrophy is symptomatic and supportive.
Therapies: Investigational
Current research is directed toward the identification and cloning of genes,
and defining the specific gene abnormality responsible for the
leukodystrophy. Bone marrow transplantation is being researched as a
possible treatment for Metachromatic Leukodystrophy patients. This involves
extracting cross-matched bone marrow from a healthy donor and injecting it
into the patient. The healthy bone marrow cells enter the general
circulation and migrate through the blood to marrow cavities in the patient's
bones. The new marrow cells begin to grow and produce new white blood cells
and platelets. This procedure involves risks which must be balanced against
possible benefits. It is used experimentally in the most severe cases of
this disorder.
Bone marrow transplantation is being tested as a treatment for late
infantile Metachromatic Leukodystrophy. Bone marrow transplantation is not
recommended for patients with relatively advanced neurological symptoms.
More research is needed to determine the safety and effectiveness of this
procedure.
This disease entry is based upon medical information available through
April 1989. Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
Resources
For more information on Metachromatic Leukodystrophy, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
United Leukodystrophy Foundation, Inc.
2304 Highland Drive
Sycamore, IL 60178
(815) 895-3211
(800) 728-5483
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon St, Rm. 304
Brookline, MA 02164
(617) 277-4463 or 277-3965
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Association Europeenne contre les Leucodystrophies
7 Rue Pasteur
54000 NANCY
France
For information on genetics and genetic counseling referrals, please
contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme
Research Laboratories, 1987. P. 1013.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2215-6.