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currently there is no treatment for tay-sachs. doctors might prescribe medications for some symptoms but there is no permanent relief

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National Institute of Neurological Disorders and Stroke

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Tay-Sachs disease is a rare, inherited metabolic disease that mostly affects young children and involves progressive damage to and death of cells, particularly in the brain. It is caused by a mutation in the enzyme hexosaminidase A, which allows the harmful buildup of lipids (fatty materials such as oils and acids) in cells. Both parents must carry the mutated gene in order to have a child with Tay-Sachs disease. Tay-Sachs disease is part of a group of genetic disorders called the GM 2 gangliosidoses.

Ashkenazi

Learn About Clinical Trials

Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

All types of volunteers are needed- those who are healthy or may have an illness or disease- of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You . Learn about clinical trials currently looking for people with Tay-Sachs disease at Clinicaltrials.gov .

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Tay-Sachs disease is a rare, inherited metabolic disease that mostly affects young children and involves progressive damage to and death of cells, particularly in the brain. It is caused by a mutation in the enzyme hexosaminidase A, which allows the harmful buildup of lipids (fatty materials such as oils and acids) in cells.

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https://www.qfg.com.au/tests-treatments/genetic-testing/karyotyping

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https://www.msn.com/en-in/health/condition/Tay-Sachs%20disease?ocid=entnewsntp&cvid=49e228dc9492458fb0c18859b1044ccb

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Picture of the chromosome carrying the gene of the disorder

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Picture of the chromosome carrying the gene of the disorder

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https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

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Symptoms of Tay-Sachs usually start when a child is about 3 months to about 6 months old.
some common symptoms are-
- overly startled by loud noises/movements
- being very slow to reach milestones like learning to crawl, and losing skills already learned
- floppiness and weakness, that keeps getting worse until paralysis
- difficulty swallowing
- loss of vision or hearing
- muscle stiffness
- seizures

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Tay-Sachs disease is a rare inherited condition that mainly affects babies and young children. It stops the nerves working properly and is usually fatal.
It used to be most common in people of Ashkenazi Jewish descent (most Jewish people in the UK), but many cases now occur in people from other ethnic backgrounds.

Symptoms

Symptoms of Tay-Sachs disease usually start when a child is 3 to 6 months old.

The main symptoms include:

being overly startled by noises and movement

being very slow to reach milestones like learning to crawl, and losing skills they have already learnt

floppiness and weakness, which keeps getting worse until they're unable to move (paralysis)

difficulty swallowing

loss of vision or hearing

muscle stiffness

seizures (fits)

The condition is usually fatal by around 3 to 5 years of age, often due to complications of a lung infection (pneumonia).

Rarer types of Tay-Sachs disease start later in childhood (juvenile Tay-Sachs disease) or early adulthood (late-onset Tay-Sachs disease). The late-onset type doesn't always shorten life expectancy.

How it's inherited

Tay-Sachs disease is caused by a problem in a child's genes that means their nerves stop working properly.

A child can only have it if both parents have this faulty gene. The parents themselves don't usually have any symptoms - this is known as being a "carrier".

If 2 people who are carriers have a child, there's a:

1 in 4 (25%) chance the child won't inherit any faulty genes and won't have Tay-Sachs disease or be able to pass it on

1 in 2 (50%) chance the child inherits a faulty gene from one parent and becomes a carrier, but won't have the condition themselves

1 in 4 (25%) chance the child inherits a faulty gene from both parents and develops Tay-Sachs disease

When to get medical advice

Speak to your GP if:

you're planning a pregnancy and you or your partner have a Ashkenazi Jewish background, a history of Tay-Sachs disease in either of your families, or you know you're carriers

you're pregnant and concerned your baby could have Tay-Sachs disease - you can also speak to your midwife for advice

you're worried your child might have symptoms of Tay-Sachs disease - especially if someone in your family had it

If you're pregnant or planning a pregnancy, you may be referred to a genetic counsellor to discuss having a test to see if you're at risk of having a child with Tay-Sachs disease and talk about your options.

If your child has possible symptoms of Tay-Sachs disease, a blood test can show if they have it.

Treatments

There's currently no cure for Tay-Sachs disease. The aim of treatment is to make living with it as comfortable as possible.

You'll see a team of specialists, who will help come up with a treatment plan for your child.

Treatments may include:

medicines for seizures and stiffness

speech and language therapy for feeding and swallowing problems - sometimes special bottles or a feeding tube may be needed

physiotherapy to help with stiffness and improve coughing (to reduce the risk of pneumonia)

antibiotics to treat infections like pneumonia if they occur

Your care team will talk to you about end of life issues, such as where you'd like your child to receive care and if you'd like them to be resuscitated if their lungs stop working.

Further information and advice

You can get more information and support from:

If you're interested in finding out more about research into treatments for Tay-Sachs disease, ask your care team about any research you might be able to get involved in.

Information about your child

If your child has Tay-Sachs disease, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.
Find out more about the register

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Tay-Sachs disease is a rare inherited condition that mainly affects babies and young children. It stops the nerves working properly and is usually fatal. It used to be most common in people of Ashkenazi Jewish descent (most Jewish people in the UK), but many cases now occur in people from other ethnic backgrounds.

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National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure to the Tay-Sachs, disease. They do this by driving research, forging collaboration, and fostering community.

https://rarediseases.org/organizations/national-tay-sachs-allied-diseases-association-inc-ntsad/

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How many people does this disorder affect

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How many people does this disorder affect

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For people who aren't from high-risk backgrounds, around 1 out of 300 people carry the genetic change (or variant gene) that causes Tay-Sachs. however for people of Ashkenazi Jewish descent: around 1 in 30 people carry the variant gene.

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What is Tay-Sachs disease?

Tay-Sachs disease (the most severe form of Hexosaminidase A deficiency) is a progressive, fatal genetic condition that affects the nerve cells in the brain. People with Tay-Sachs lack a specific protein (enzyme) called hexosaminidase A. This enzyme deficiency causes a fatty substance, GM2 ganglioside, to build up in the brain. It is this accumulation that causes the symptoms of Tay-Sachs.

What causes Tay-Sachs disease?

All people have two copies of the Tay-Sachs gene (HEXA). Tay-Sachs occurs when neither of a person's HEXA genes is working properly because of a mutation (harmful change). If a person has one working copy of the HEXA gene and the other copy has a mutation in it, he/she is called a "carrier." Carriers don't show symptoms but when two carriers have children together each child (boy or girl) will have a 25% (1/4) chance of developing Tay-Sachs. If only one parent passes on the defective gene to the child (50% chance in each pregnancy), the child will not develop the disease but will be a carrier and have the potential to pass the disease on to his or her children.

Although anyone can be a carrier of Tay-Sachs disease, the disease is much more common among people of Ashkenazi (Eastern European) Jewish descent. One in every 30 people of Ashkenazi Jewish descent is a carrier. Other populations with as many (or more) carriers include French Canadians, Cajuns (from Louisiana) and Old Order Amish in Pennsylvania. Some studies state that people of Irish ancestry have a 1 in 50 chance of being a carrier. Around 1 in every 300 people who are not of these backgrounds is a carrier for Tay-Sachs.

What are the symptoms of Tay-Sachs disease?

Symptoms of Tay-Sachs usually develop around 3-6 months of age when the child starts to have muscle weakness, low muscle tone, an increased startle response and sudden contractions of large muscles when falling asleep (myoclonic jerks).

Between 6 and 10 months of age, a child will not meet motor milestones and may lose the ability to perform tasks (such as sitting) that he/she had previously learned. Decreased eye movement and contact as well as attentiveness are also seen along with a specific change in the eye called a cherry-red spot which can be seen during an eye exam.

After 8 to 10 months of age, a baby will move less and become less responsive. Vision will be lost and many will have seizures by a year of age. A person's head size will start to grow around 18 months of age and when a child is 2 years old, they typically have trouble swallowing and progress into an unresponsive vegetative state. Age of death is usually between 2 and 4 years, often from pneumonia.

In addition to classic Tay-Sachs, there are other forms of Hexosaminidase A deficiency that are sometimes referred to as forms of Tay-Sachs:

Juvenile Hexosaminidase A deficiency begins with trouble walking (ataxia) and incoordination in early childhood. Symptoms are similar to those of classic Tay-Sachs although the cherry-red spot is not as common. Age of death is usually in teenage years, usually from infections, although some will die much sooner.

Chronic Hexosaminidase A deficiency usually develops before age 10 but people do not lose as many motor skills as those with Tay-Sachs. Cognitive and verbal skills are affected later in the course.

Adult-onset Hexosaminidase A deficiency causes slow but progressive muscle weakness and wasting as well as trouble speaking clearly, cognitive problems, and dementia. Up to 40% of people have psychiatric problems (which can be present without dementia). Severity, even within a family, is very variable. Life expectancy can vary widely and may not be shortened.

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Tay-Sachs Disease, Tay-Sachs Symptoms, Tay-Sachs Causes | Cleveland Clinic Children's

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Tay-Sachs disease (the most severe form of Hexosaminidase A deficiency) is a progressive, fatal genetic condition that affects the nerve cells in the brain. People with Tay-Sachs lack a specific protein (enzyme) called hexosaminidase A. This enzyme deficiency causes a fatty substance, GM2 ganglioside, to build up in the brain.

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autosomal recessive pattern passed down from two parents who are carriers to their child

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Description

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells ( neurons) in the brain and spinal cord.

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. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood.

Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.

Frequency

Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.

Causes

Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.

Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of Tay-Sachs disease.

Because Tay-Sachs disease impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

B variant GM2 gangliosidosis

GM2 gangliosidosis, type 1

HexA deficiency

Hexosaminidase A deficiency

Hexosaminidase alpha-subunit deficiency (variant B)

Sphingolipidosis, Tay-Sachs

TSD

Additional Information & Resources

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

References

Chavany C, Jendoubi M. Biology and potential strategies for the treatment of GM2 gangliosidoses. Mol Med Today. 1998 Apr;4(4):158-65. Review. Citation on PubMed

Fernandes Filho JA, Shapiro BE. Tay-Sachs disease. Arch Neurol. 2004 Sep;61(9):1466-8. Review. Citation on PubMed

Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2. Review. Erratum in: Pediatrics. 2007 Oct;120(4):936. Citation on PubMed or Free article on PubMed Central

Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. Review. Citation on PubMed

Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. Hum Mutat. 2005 Sep;26(3):282. Citation on PubMed

Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005 Feb;7(2):119-23. Citation on PubMed

Toro C, Shirvan L, Tifft C. HEXA Disorders. 1999 Mar 11 [updated 2020 Oct 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1218/ Citation on PubMed

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Tay-Sachs disease (TSD) is medically known as GM2 gangliosidosis or Hexosaminidase A deficiency

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Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.

It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay-Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common.

The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887.

Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several populations. French Canadians of southeastern Quebec have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Many Cajuns of southern Louisiana carry the same mutation that is most common in Ashkenazi Jews. Most HEXA mutations are rare, and do not occur in genetically isolated populations. The disease can potentially occur from the inheritance of two unrelated mutations in the HEXA gene.

TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

Further Reading

This article is licensed under the Creative Commons Attribution-ShareAlike License. It uses material from the Wikipedia article on " Tay-Sachs disease" All material adapted used from Wikipedia is available under the terms of the Creative Commons Attribution-ShareAlike License. Wikipedia® itself is a registered trademark of the Wikimedia Foundation, Inc.

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Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.

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The most promising research at this point in time is enzyme replacement therapy. And the Jacob sheep model, reduction therapy, and increasing the activity of hexosaminidase A.

https://www.news-medical.net/health/Tay-Sachs-Disease-Research.aspx#:~:text=Among%20the%20most%20promising%20research,activity%20of%20%CE%B2%2Dhexosaminidase%20A.

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As there is currently no successful treatment for individuals with Tay-Sachs disease, there is a need for significant research into therapeutic techniques that could be useful in the treatment for the disease.

Among the most promising research at this point in time are enzyme replacement therapy (ERT), the Jacob sheep model, substrate reduction therapy, and increasing the activity of β-hexosaminidase A.

What is Tay-Sachs Disease? (GM2 Gangliosidosis)

ERT

ERT has been considered as an approach for the treatment of Tay-Sachs disease and other lysosomal storage disorders.

The aim of ERT is to provide a replacement of the HEXA enzyme that can play the role of the non-functional enzyme of individuals with the disease. However, this process is limited by the physical size of the enzyme, which appears to be too large to traverse the blood-brain barrier (BBB) as necessary.

Some research has investigated the possibility of administering the HEXA enzyme directly into the cerebrospinal fluid (CSF) to surpass this issue. However, current research has not been able to show the successful uptake of the enzyme, even when it is administered directly to the central nervous system (CNS).

To date, this research approach has been futile; however, current researchers continue to examine the mechanism and consider administration techniques of the enzyme that could be effective.

Jacob Sheep Model

A rare breed of sheep, known as Jacob sheep, has been used as a model in the research of Tay-Sachs disease due to their susceptibility to the disease. The pathophysiology and the specific gene mutation of the disease are virtually identical in humans and these sheep, which advocates for the use of these animals as a research model.

Of particular note, research has discovered a certain mutation in the HEXA complimentary deoxyribonucleic acid (cDNA) of sheep with Tay-Sachs disease, known as G444R, which is a missense mutation. This arises due to a change of nucleotide at exon 11, leading to the splicing of the exon before it can be transcribed.

Although this finding has yet to provide a treatment for Tay-Sachs disease, it is a promising lead that is being investigated further in gene therapy clinical trials that may expand future treatment options.

Substrate reduction therapy

Substrate reduction therapy is a technique that involves the use of enzymes to increase the catabolism of the GM2 gangliosides in the CNS and thus substitute the role of the missing HEXA enzyme. The aim of this treatment approach is to prevent the accumulation of lipids, as well as the development of symptoms and progression of the disease.

Sialidase is one enzyme that has been considered in this therapeutic approach, as it enables the bypass of the genetic defect and the healthy metabolism of GM2 gangliosides to occur. Although this could be a promising treatment for Tay-Sachs disease, it has yet to be developed into a pharmacological form that is safe and effective.

Miglustat is also being investigated as a possible treatment, which works with an antagonistic effect on the glucosylceramide synthase enzyme. This enzyme is important in the synthesis of GM2 gangliosides and could, therefore, help in the treatment of the disease.

β-hexosaminidase A activity

Another approach that has been studied for the treatment of Tay-Sachs disease has been to increase the activity of the HEXA enzyme so that the deficiency that characterizes this disease is less significant.

This is primarily considered an option for late onset Tay-Sachs disease; however, patients with infantile Tay-Sachs disease tend to lack the enzyme completely and would not benefit from an increase in the spectrum of activity.

Pyrimethamine is a drug that has shown some activity in this area. Unfortuantely, the overall efficacy of this drug is not high, as the activity of β-hexosaminidase A is still much lower than in unaffected populations.

References

Further Reading

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As there is currently no successful treatment for individuals with Tay-Sachs disease, there is a need for significant research into therapeutic techniques that could be useful in the treatment for the disease. Among the most promising research at this point in time are enzyme replacement therapy (ERT), the Jacob sheep model, substrate reduction therapy, and increasing the activity of β-hexosaminidase A.