CD-ROM Today (UK) (Spanish) 15/CDRT.iso/dp/0420/04204.txt

Text File | 1994-01-18 | 8.2 KB | 201 lines

$Unique_ID{BRK04204}
$Pretitle{}
$Title{Sandhoff Disease}
$Subject{Sandhoff Disease Gangliosidosis GM2 Type 2 Tay-Sachs Disease Gaucher
Disease Niemann-Pick Disease Fabry's Disease Leigh's Disease Batten Disease
Kufs Disease Epilepsy }
$Volume{}
$Log{}

Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders,
Inc.

94:
Sandhoff Disease

** IMPORTANT **
It is possible that the main title of the article (Sandhoff Disease) is
not the name you expected.  Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Gangliosidosis GM2 Type 2

Information on the following diseases can be found in the Related
Disorders section of this report:

     Tay-Sachs Disease
     Gaucher Disease
     Niemann-Pick Disease
     Fabry's Disease
     Leigh's Disease
     Batten Disease
     Kufs Disease
     Epilepsy

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.


Sandhoff Disease is a progressive, inherited, lipid storage disorder that
causes the destruction of the central nervous system.  A more severe form of
Tay-Sachs Disease, it involves the larger organs of the body and is not
restricted to any particular ethnic group.

Symptoms

The onset of Sandhoff Disease is usually in the third month of life.  There
may be progressive motor and mental deterioration with a marked startle
response to sound, an increased tension in the muscles (spasticity).  Other
characteristics may include murmurs of the heart, myoclonic and generalized
seizures, enlargement of the liver and spleen, and early blindness.  The
great toe extends instead of flexing (positive Babinski sign) and the outer
toes spread after the side of the sole of the foot has been stroked.

Causes

Sandhoff Disease is an inherited, lipid storage disorder caused by a
deficiency of the enzyme Hexosaninidase A and B, and an accumulation of GM2
gangliosidosis in the brain and other internal organs.  It is believed to be
transmitted through the autosomal recessive genes.

Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, 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 for the same trait from each parent.
If a person 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

Sandhoff Disease is a very rare disorder affecting males and females in equal
numbers.  It is found in people of all ethnic backgrounds.

Related Disorders

Symptoms of the following disorders can be similar to those of Sandhoff
Disease.  Comparisons may be useful for a differential diagnosis:

Tay-Sachs Disease is a genetic disorder of lipid metabolism that causes
progressive destruction of the central nervous system.  It is generally found
among children with East European Jewish heritage and becomes clinically
apparent at about 6 months of age.  (For more information on this disorder,
choose "Tay-Sachs" as your search term in the Rare Disease Database.)

Gaucher Disease is an inherited disease of lipid metabolism caused by the
failure to produce the enzyme glucocerebrosidase.  It is the most common of
the fourteen lipid storage disorders which includes Tay-Sachs, Fabry's
Disease, Sandhoff Disease, and Niemann-Pick Disease.  (For more information on
this disorder, choose "Gaucher" as your search term in the Rare Disease
Database).

Niemann-Pick is a rare, familial disorder of lipid metabolism
characterized by an accumulation of sphingomyelin and cholesterol in the
reticuloendothelial cells.  For more information on this disorder, choose
"Niemann" as your search term in the Rare Disease Database).

Fabry Disease is a very rare, familial, sex-linked disorder of lipid
metabolism in which products of glycopids (fats containing carbohydrate-like
glucose) accumulate in various tissues.  While this hereditary disorder
affects both sexes, it tends to be milder in females.  (For more information
on this disorder, choose "Fabry" as your search term in the Rare Disease
Database).

Batten's Disease is a hereditary lipid storage disorder transmitted as a
recessive trait.  It is characterized by rapidly progressive vision failure
(optic atrophy), deterioration of intellect, seizures, loss of muscular
coordination and a backward lateral curvature of the spinal column
(kyphoscoliosis).  Occuring mostly in white females of Northern European
Scandinavian ancestry, Batten's Disease usually begins between five and seven
years of age.  (For more information on this disorder, choose "Batten" as
your search term in the Rare Disease Database.)

Kuf's Disease is characterized by neurological symptoms which may mimic
mental illness, and dermatological abnormalities resembling Ichthyosis (dry
and flaky skin).  Symptoms of Kuf's Disease may be linked to excessive
accumulation of pigments (lipofuscins) dissolved in fatty tissues that are
found throughout the central nervous system.  (For more information on this
disorder choose, "Kuf" as your search term in the Rare Disease Database.)

Epilepsy is a disorder of the central nervous system characterized by a
sudden aimless and uncontrollable discharge of electrical energy in the
brain.  This discharge is sometimes preceded by a strange feeling (aura) and
is characterized by convulsions and the loss of consciousness.  Epileptic
seizures occur in patients with Sandhoff Disease.  (For more information on
this disorder, choose "Epilepsy" as your search term in the Rare Disease
Database.)

Therapies:  Standard

Genetic counselling will be of benefit for families of people with Sandhoff's
Disease.  Other treatment is symptomatic and supportive.

Therapies:  Investigational

Experimental trials of enzyme therapy in cats are being tested as a possible
treatment for humans with Sandhoff's Disease.  More research is needed to
determine safety and effectiveness of enzyme replacement therapy in humans.

This disease entry is based upon medical information available through
June 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 Sandhoff Disease, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     National Tay-Sachs and Allied Diseases Association, Inc.
     2001 Beacon St, Rm. 304
     Brookline, MA  02164
     [phone] or 277-3965

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 7th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp.  1177.

THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.:  John B. Stanbury, et
al., eds.;  McGraw Hill, 1983.  Pp.957.

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief;  Little, Brown
and Co., 1987.  Pp. 2075.