Tay-Sachs Disease

Choki Pratamaz

@chokichoki

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for Tay-Sachs Disease, a genetic disorder most prevalent among Ashkanazi Jews.

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Choki Pratamaz

@chokichoki

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for Tay-Sachs Disease, a genetic disorder most prevalent among Ashkanazi Jews.

Tay-Sachs Disease, Treatment - NHS

There's currently no cure for Tay-Sachs disease, so the aim of treatment is to make living with the condition as comfortable as possible.
http://www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Treatment.aspx
Tay-Sachs Disease - Patient Info

Tay-Sachs disease (and its variants) are caused by absence or defects of the alpha subunit of hexosaminidase A. This leads to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This causes progressive neurodegeneration and developmental delay.
http://patient.info/doctor/tay-sachs-disease.htm
Tay Sachs Disease - NORD

Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells.
http://rarediseases.org/rare-diseases/tay-sachs-disease
Tay-Sachs Disease - NIH

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
https://ghr.nlm.nih.gov/condition/tay-sachs-disease
Learning About Tay-Sachs Disease - NIH

Answers to frequently asked questions about Tay-Sachs disease, published by the National Human Genome Research Institute.
https://www.genome.gov/10001220
Tay-Sachs Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)

Tay-sachs disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm
Tay-Sachs Disease - NHS Choices

Tay-Sachs disease is a very rare and usually fatal genetic disorder that causes progressive damage to the nervous system.
http://www.nhs.uk/conditions/Tay-Sachs-disease/Pages/Introduction.aspx
Tay-Sachs Disease - Genetics Home Reference

The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. Learn more here.
http://ghr.nlm.nih.gov/condition/tay-sachs-disease
Tay-Sachs Disease - Kid's Health

A baby with Tay-Sachs disease is born without an important enzyme, so fatty proteins build up in the brain, hurting the baby's sight, hearing, movement, and mental development.
http://kidshealth.org/en/parents/tay-sachs.html
Tay-sachs Disease - National Tay-Sachs and Allied Diseases Association of Delaware Valley

National Tay-Sachs and Allied Diseases Association of Delaware Valley (NTSAD-DV) is a non-profit, volunteer health agency dedicated to the prevention and elimination of Tay-Sachs, Canavan and the allied diseases.
http://www.tay-sachs.org/taysachs_disease.php
Tay-Sachs Disease - Healthline

Tay-Sachs disease is a neurodegenerative disorder most commonly found in infants. Learn more about this rare disease.
http://www.healthline.com/health/tay-sachs-disease
Tay Sachs Disease - NORD (National Organization for Rare Disorders)

Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. This abnormal accumulation of gangliosides leads to progressive dysfunction of the central nervous system. This disorder is categorized as a lysosomal storage disease.
http://rarediseases.org/rare-diseases/tay-sachs-disease/
The Cure Tay-Sachs Foundation: About Tay-Sachs Disease

Hereditary disorder resulting from a deficiency of the enzyme hexosaminidase. Symptoms include blindness, delayed development, seizures and paralysis. Tay-Sachs disease often results in an early death.
http://www.curetay-sachs.org/about.shtml
Tay-Sachs Disease - Mayo Clinic

Tay-Sachs disease is a rare disorder passed from parents to child. In the most common form, a baby about 6 months old will begin to show symptoms.
http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/basics/definition/con-20036799
Tay-Sachs Disease - Wikipedia, the Free Encyclopedia

Wikipedia's information about Tay-Sachs disease.
https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

Comments

Tay–Sachs disease
Other names	GM2 gangliosidosis, hexosaminidase A deficiency^[1]

Cherry-red spot as seen in the retina in Tay–Sachs disease. The fovea's center appears bright red because it is surrounded by a whiter than usual area.
Specialty	Medical genetics
Symptoms	Initially: Decreased ability to turn over, sit, or crawl^[1] Later: Seizures, hearing loss, inability to move^[1]
Usual onset	Three to six months of age^[1]
Duration	Long term^[2]
Types	Infantile, juvenile, late-onset^[2]
Causes	Genetic (autosomal recessive)^[1]
Diagnostic method	Testing blood hexosaminidase A levels, genetic testing^[2]
Differential diagnosis	Sandhoff disease, Leigh syndrome, neuronal ceroid lipofuscinoses^[2]
Treatment	Supportive care, psychosocial support^[2]
Prognosis	Death often occurs in early childhood^[1]
Frequency	Rare in the general population^[1]
Named after	Waren Tay Bernard Sachs

Source : Wikipedia under CC-BY-SA license

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Tay-Sachs Disease, Treatment - NHS

There's currently no cure for Tay-Sachs disease, so the aim of treatment is to make living with the condition as comfortable as possible.
http://www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Treatment.aspx
Tay-Sachs Disease - Patient Info

Tay-Sachs disease (and its variants) are caused by absence or defects of the alpha subunit of hexosaminidase A. This leads to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This causes progressive neurodegeneration and developmental delay.
http://patient.info/doctor/tay-sachs-disease.htm
Tay Sachs Disease - NORD

Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells.
http://rarediseases.org/rare-diseases/tay-sachs-disease
Tay-Sachs Disease - NIH

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
https://ghr.nlm.nih.gov/condition/tay-sachs-disease
Learning About Tay-Sachs Disease - NIH

Answers to frequently asked questions about Tay-Sachs disease, published by the National Human Genome Research Institute.
https://www.genome.gov/10001220
Tay-Sachs Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)

Tay-sachs disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm
Tay-Sachs Disease - NHS Choices

Tay-Sachs disease is a very rare and usually fatal genetic disorder that causes progressive damage to the nervous system.
http://www.nhs.uk/conditions/Tay-Sachs-disease/Pages/Introduction.aspx
Tay-Sachs Disease - Genetics Home Reference

The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. Learn more here.
http://ghr.nlm.nih.gov/condition/tay-sachs-disease
Tay-Sachs Disease - Kid's Health

A baby with Tay-Sachs disease is born without an important enzyme, so fatty proteins build up in the brain, hurting the baby's sight, hearing, movement, and mental development.
http://kidshealth.org/en/parents/tay-sachs.html
Tay-sachs Disease - National Tay-Sachs and Allied Diseases Association of Delaware Valley

National Tay-Sachs and Allied Diseases Association of Delaware Valley (NTSAD-DV) is a non-profit, volunteer health agency dedicated to the prevention and elimination of Tay-Sachs, Canavan and the allied diseases.
http://www.tay-sachs.org/taysachs_disease.php
Tay-Sachs Disease - Healthline

Tay-Sachs disease is a neurodegenerative disorder most commonly found in infants. Learn more about this rare disease.
http://www.healthline.com/health/tay-sachs-disease
Tay Sachs Disease - NORD (National Organization for Rare Disorders)

Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. This abnormal accumulation of gangliosides leads to progressive dysfunction of the central nervous system. This disorder is categorized as a lysosomal storage disease.
http://rarediseases.org/rare-diseases/tay-sachs-disease/
The Cure Tay-Sachs Foundation: About Tay-Sachs Disease

Hereditary disorder resulting from a deficiency of the enzyme hexosaminidase. Symptoms include blindness, delayed development, seizures and paralysis. Tay-Sachs disease often results in an early death.
http://www.curetay-sachs.org/about.shtml
Tay-Sachs Disease - Mayo Clinic

Tay-Sachs disease is a rare disorder passed from parents to child. In the most common form, a baby about 6 months old will begin to show symptoms.
http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/basics/definition/con-20036799
Tay-Sachs Disease - Wikipedia, the Free Encyclopedia

Wikipedia's information about Tay-Sachs disease.
https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

Tay–Sachs disease
Other names	GM2 gangliosidosis, hexosaminidase A deficiency^[1]

Cherry-red spot as seen in the retina in Tay–Sachs disease. The fovea's center appears bright red because it is surrounded by a whiter than usual area.
Specialty	Medical genetics
Symptoms	Initially: Decreased ability to turn over, sit, or crawl^[1] Later: Seizures, hearing loss, inability to move^[1]
Usual onset	Three to six months of age^[1]
Duration	Long term^[2]
Types	Infantile, juvenile, late-onset^[2]
Causes	Genetic (autosomal recessive)^[1]
Diagnostic method	Testing blood hexosaminidase A levels, genetic testing^[2]
Differential diagnosis	Sandhoff disease, Leigh syndrome, neuronal ceroid lipofuscinoses^[2]
Treatment	Supportive care, psychosocial support^[2]
Prognosis	Death often occurs in early childhood^[1]
Frequency	Rare in the general population^[1]
Named after	Waren Tay Bernard Sachs

Source : Wikipedia under CC-BY-SA license

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Tay-Sachs Disease

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for Tay-Sachs Disease, a genetic disorder most prevalent among Ashkanazi Jews.

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