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Image describing where Tay-Sachs affects the victim

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Image describing where Tay-Sachs affects the victim

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What the karyotype of a Tay-Sach Victim looks like

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What the karyotype of a Tay-Sach Victim looks like

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One Organization promoting this disorder

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One Organization promoting this disorder

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The organization NSTAD (National Tay-Sachs & Allied Diseases) is a Nation wide organization that fights to treat and cure victims of Tay-Sachs, along with a few other diseases, supporting families and the victims of this disease as they fight. Being the oldest advocacy group in the country, they focus on supporting over 750 families across the country!

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

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The name originates in 1881, named after the British "ophthalmologist"  Warren Tay, The scientific name of this disease is "GM2 gangliosidosis.", A rare disease discovered by Warren Tay, which lead to it being named after him.

[https://www.news-medical.net/health/What-is-Tay-Sachs-Disease.aspx#:~:text=The%20disease%20is%20named%20after,in%20the%20Eastern%20European%20Jewish%20(]

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In the last slide of treatment the disease there are no successful one. But there is   significant research into therapeutic techniques that will bring about for the treatment of the disease so that way among the most promising research there will be a point in time they'll be anm enzyme replacement therapy.

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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 therapy techniques that could be useful in the treatment for the disease.

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

Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) has been considered as a treatment technique for Tay-Sachs disease and other lysosomal storage disorders.

The treatment aim would be 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 as necessary.

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

To date, this research approach has been futile but 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 the sheep, which advocates for the use of the animals as a research model.

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

Although this find is yet to provide a treatment for Tay-Sachs disease, it is a promising lead that is being investigated further in clinical trials of gene therapy that may lead to 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 central nervous system, substituting the role of the missing Hex-A enzyme. The aim of treatment is to prevent the accumulation of the lipids and prevent the symptoms and progression of the disease.

Sialidase is one enzyme that has been considered in this therapy, which 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 is 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 research approach has been to increase the activity of the HEXA enzyme, such that the deficiency that characterizes the disease is less significant.

This is primarily considered an option for late onset Tay-Sachs disease, however, as 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 but the overall efficacy 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 therapy techniques that could be useful in the treatment for the disease. Among the most promising research at this point in time is enzyme replacement therapy, the Jacob sheep model, substrate reduction therapy and the increasing the activity of β-hexosaminidase A.

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How can you treat tay-sachs you may ask? well... you cant because there are no treatments for the disease pesenlty, there are anticonvulsant medicine that may initially control seizures. But other supportive treatment includes: proper nutrition & hydration & techniques to keep the airway open. But eventually Children may need a feeding tube so they can get the nutrition & hydration they will need.

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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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Symptoms of the infantile Tay-Sachs disease starts when a child is 3-6 months old. The symptoms of the Tay-Sachs includes,being overly startled by noises and movement, being very slow when reaching  milestones like learning to crawl, losing skills they have already learnt
floppiness and weakness in which itll keep getting worse until the baby is (paralysis) as well as muscle stiffness. The child could Esspically have difficulty swallowing, loss of vision and/or hearing. (This fatal condition can occur around 3 to 5 years of age)

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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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The disease can be inhertiated from your parents. Sometimes some children have the disease and may live into their teen years with it. Rarely some adults have a late-onset form of Tay-Sachs disease. if you have a family history tay-sach or your a member of a high-risk group/family and plan to have children in the future.

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Overview

Tay-Sachs disease is a rare genetic disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.

In the most common and severe form of Tay-Sachs disease, signs and symptoms start to show up at about 3 to 6 months of age. As the disease progresses, development slows and muscles begin to weaken. Over time, this leads to seizures, vision and hearing loss, paralysis, and other major issues. Children with this form of Tay-Sachs disease typically live only a few years.

Less commonly, some children have the juvenile form of Tay-Sachs disease and may live into their teen years. Rarely, some adults have a late-onset form of Tay-Sachs disease which is often less severe than forms that begin in childhood.

If you have a family history of Tay-Sachs disease or if you're a member of a high-risk group and plan to have children, health care providers strongly recommend genetic testing and genetic counseling.

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Symptoms

There are three forms of Tay-Sachs disease: infantile, juvenile and late onset/adult.

Infantile form

In the most common and severe form, called infantile form, an infant typically begins showing signs and symptoms by about 3 to 6 months of age. Survival is usually only a few years. Signs and symptoms can include:

Exaggerated startle response when the baby hears loud noises

"Cherry-red" spots in the eyes

Loss of motor skills, including turning over, crawling and sitting up

Muscle weakness, progressing to paralysis

Movement problems

Seizures

Vision loss and blindness

Hearing loss and deafness

Problems swallowing

Loss of mental functions and a lack of response to surroundings

Growth in head size (progressive macrocephaly)

Juvenile form

The juvenile form of Tay-Sachs disease is less common. Signs and symptoms vary in severity and begin in childhood. Survival is typically into the teen years. Signs and symptoms can include:

Behavior problems

Gradual loss of skills and movement control

Frequent respiratory infections

Slow loss of vision and speech

Decline in mental function and responsiveness

Seizures

Last onset/adult form

This is a rare and less severe form with signs and symptoms beginning in late childhood to adulthood. Severity of symptoms varies greatly, and this form does not always impact life expectancy. Signs and symptoms progress slowly and can include:

Muscle weakness

Clumsiness and loss of coordination

Tremors and muscle spasms

Loss of the ability to walk

Problems speaking and swallowing

Psychiatric disorders

Sometimes loss of mental function

When to see a doctor

If you or your child has any of the signs or symptoms that may indicate Tay-Sachs disease, or if you have concerns about your child's development, schedule an appointment with your health care provider.

Causes

Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits a flaw (mutation) in the HEXA gene from both parents.

The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A. This enzyme is required to break down the fatty substance GM2 ganglioside. The buildup of fatty substances damages nerve cells in the brain and spinal cord. Severity and age of onset of the disease relates to how much enzyme is still produced.

Risk factors

Because the gene change that causes Tay-Sachs disease is found more often in certain populations, risk factors for Tay-Sachs disease include having ancestors from:

Eastern and Central European Jewish communities (Ashkenazi Jews)

Certain French Canadian communities in Quebec

Cajun community of Louisiana

Old Order Amish community in Pennsylvania

A blood test can be used to identify carriers of the HEXA gene change that causes Tay-Sachs disease. Genetic counseling is recommended following testing.

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Tay-Sachs disease is a rare genetic disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.

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A rare disease in which comes from a gentic disorder that happens when an absence of an enzyme that helps break down the fatty substances and the genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme. It happens when a child inherits a flaw meaning mutation, in the HEXA gene from both of the parents.

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Overview

Tay-Sachs disease is a rare genetic disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.

In the most common and severe form of Tay-Sachs disease, signs and symptoms start to show up at about 3 to 6 months of age. As the disease progresses, development slows and muscles begin to weaken. Over time, this leads to seizures, vision and hearing loss, paralysis, and other major issues. Children with this form of Tay-Sachs disease typically live only a few years.

Less commonly, some children have the juvenile form of Tay-Sachs disease and may live into their teen years. Rarely, some adults have a late-onset form of Tay-Sachs disease which is often less severe than forms that begin in childhood.

If you have a family history of Tay-Sachs disease or if you're a member of a high-risk group and plan to have children, health care providers strongly recommend genetic testing and genetic counseling.

Products & Services

Symptoms

There are three forms of Tay-Sachs disease: infantile, juvenile and late onset/adult.

Infantile form

In the most common and severe form, called infantile form, an infant typically begins showing signs and symptoms by about 3 to 6 months of age. Survival is usually only a few years. Signs and symptoms can include:

Exaggerated startle response when the baby hears loud noises

"Cherry-red" spots in the eyes

Loss of motor skills, including turning over, crawling and sitting up

Muscle weakness, progressing to paralysis

Movement problems

Seizures

Vision loss and blindness

Hearing loss and deafness

Problems swallowing

Loss of mental functions and a lack of response to surroundings

Growth in head size (progressive macrocephaly)

Juvenile form

The juvenile form of Tay-Sachs disease is less common. Signs and symptoms vary in severity and begin in childhood. Survival is typically into the teen years. Signs and symptoms can include:

Behavior problems

Gradual loss of skills and movement control

Frequent respiratory infections

Slow loss of vision and speech

Decline in mental function and responsiveness

Seizures

Last onset/adult form

This is a rare and less severe form with signs and symptoms beginning in late childhood to adulthood. Severity of symptoms varies greatly, and this form does not always impact life expectancy. Signs and symptoms progress slowly and can include:

Muscle weakness

Clumsiness and loss of coordination

Tremors and muscle spasms

Loss of the ability to walk

Problems speaking and swallowing

Psychiatric disorders

Sometimes loss of mental function

When to see a doctor

If you or your child has any of the signs or symptoms that may indicate Tay-Sachs disease, or if you have concerns about your child's development, schedule an appointment with your health care provider.

Causes

Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits a flaw (mutation) in the HEXA gene from both parents.

The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A. This enzyme is required to break down the fatty substance GM2 ganglioside. The buildup of fatty substances damages nerve cells in the brain and spinal cord. Severity and age of onset of the disease relates to how much enzyme is still produced.

Risk factors

Because the gene change that causes Tay-Sachs disease is found more often in certain populations, risk factors for Tay-Sachs disease include having ancestors from:

Eastern and Central European Jewish communities (Ashkenazi Jews)

Certain French Canadian communities in Quebec

Cajun community of Louisiana

Old Order Amish community in Pennsylvania

A blood test can be used to identify carriers of the HEXA gene change that causes Tay-Sachs disease. Genetic counseling is recommended following testing.

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Tay-Sachs disease is a rare genetic disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.