Tay-Sachs Disease Information Page

Tay-Sachs Disease Information Page


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What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.  The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.  Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  NINDS-funded research on the gangliosidoses includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression.  Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.

Information from the National Library of Medicine’s MedlinePlus
Tay-Sachs Disease

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What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.  The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.  Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  NINDS-funded research on the gangliosidoses includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression.  Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.

Information from the National Library of Medicine’s MedlinePlus
Tay-Sachs Disease

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.  The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.  Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  NINDS-funded research on the gangliosidoses includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression.  Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.

Information from the National Library of Medicine’s MedlinePlus
Tay-Sachs Disease


Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
Clinical Trials
Organizations
Organizations
Publications
Publications
Definition
Definition

Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.  It is part of a group of genetic disorders called the GM2gangliosidoses.  Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A.  Affected children appear to develop normally until about age 6 months.  Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing.  Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes.  A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.  A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.

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Definition

Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.  It is part of a group of genetic disorders called the GM2gangliosidoses.  Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A.  Affected children appear to develop normally until about age 6 months.  Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing.  Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes.  A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.  A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.

Treatment
Treatment

Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.

×
Treatment

Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.

Definition
Definition

Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.  It is part of a group of genetic disorders called the GM2gangliosidoses.  Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A.  Affected children appear to develop normally until about age 6 months.  Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing.  Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes.  A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.  A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.

Treatment
Treatment

Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.

Prognosis
Prognosis

Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

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Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

Prognosis
Prognosis

Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

Definition

Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.  It is part of a group of genetic disorders called the GM2gangliosidoses.  Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A.  Affected children appear to develop normally until about age 6 months.  Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing.  Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes.  A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.  A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.

Treatment

Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.

Prognosis

Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.  The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.  Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  NINDS-funded research on the gangliosidoses includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression.  Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.

Information from the National Library of Medicine’s MedlinePlus
Tay-Sachs Disease

Patient Organizations
Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington
DC
Washington, DC 20008-2369
Tel: 202-966-5557; 800-336-GENE (4363)
March of Dimes
1275 Mamaroneck Avenue
White Plains
NY
White Plains, NY 10605
Tel: 914-997-4488; 888-MODIMES (663-4637)
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston
MA
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)