$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 (203) 746-6518 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 For genetic information and genetic counseling referrals: 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 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.