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What is the risk of a child developing Tay-Sachs disease if both parents are carriers?
What is the risk of a child developing Tay-Sachs disease if both parents are carriers?
What is the life expectancy of children with Juvenile Tay-Sachs disease?
What is the life expectancy of children with Juvenile Tay-Sachs disease?
What is the most common form of Tay-Sachs disease?
What is the most common form of Tay-Sachs disease?
What is the purpose of a physical exam in diagnosing Tay-Sachs disease?
What is the purpose of a physical exam in diagnosing Tay-Sachs disease?
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What is the chance that a child won't inherit any variant HEXA genes if both parents are carriers?
What is the chance that a child won't inherit any variant HEXA genes if both parents are carriers?
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What is a common symptom of Tay-Sachs disease?
What is a common symptom of Tay-Sachs disease?
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How many forms of Tay-Sachs disease are there?
How many forms of Tay-Sachs disease are there?
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What is the name of the rare form of Tay-Sachs disease that starts between puberty and the mid-30s?
What is the name of the rare form of Tay-Sachs disease that starts between puberty and the mid-30s?
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What type of examination is necessary to check for signs of Tay-Sachs disease?
What type of examination is necessary to check for signs of Tay-Sachs disease?
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What is the purpose of the HEX-A blood test?
What is the purpose of the HEX-A blood test?
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What is the primary goal of treatment for Tay-Sachs disease?
What is the primary goal of treatment for Tay-Sachs disease?
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What is the purpose of genetic testing in Tay-Sachs disease?
What is the purpose of genetic testing in Tay-Sachs disease?
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What is a common complication of Tay-Sachs disease?
What is a common complication of Tay-Sachs disease?
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What is a type of therapy that can help remove mucus from the lungs?
What is a type of therapy that can help remove mucus from the lungs?
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What is a supportive measure to help manage symptoms of Tay-Sachs disease?
What is a supportive measure to help manage symptoms of Tay-Sachs disease?
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What is the prognosis for Tay-Sachs disease?
What is the prognosis for Tay-Sachs disease?
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What is the main cause of Tay-Sachs disease?
What is the main cause of Tay-Sachs disease?
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At what age do signs and symptoms of Tay-Sachs disease typically start to appear?
At what age do signs and symptoms of Tay-Sachs disease typically start to appear?
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What is the role of the Hex-A enzyme in the body?
What is the role of the Hex-A enzyme in the body?
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What is the typical outcome for children with the severe form of Tay-Sachs disease?
What is the typical outcome for children with the severe form of Tay-Sachs disease?
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What is the recommended course of action for individuals with a family history of Tay-Sachs disease?
What is the recommended course of action for individuals with a family history of Tay-Sachs disease?
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What is the term for individuals who inherit one mutated copy of the HEXA gene?
What is the term for individuals who inherit one mutated copy of the HEXA gene?
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What is the location of the HEXA gene?
What is the location of the HEXA gene?
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What is the result of the accumulation of GM2 ganglioside in nerve cells?
What is the result of the accumulation of GM2 ganglioside in nerve cells?
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Why do dentists need to be gentle and careful during check-ups and treatments?
Why do dentists need to be gentle and careful during check-ups and treatments?
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What is the purpose of regular cleanings and fluoride treatments?
What is the purpose of regular cleanings and fluoride treatments?
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Why do dentists need to be careful when giving medicine to patients?
Why do dentists need to be careful when giving medicine to patients?
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Why is it important for dentists and doctors to work together?
Why is it important for dentists and doctors to work together?
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What is a key aspect of providing care to patients with Tay-Sachs disease?
What is a key aspect of providing care to patients with Tay-Sachs disease?
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What is the benefit of regular cleanings and fluoride treatments in preventing tooth problems?
What is the benefit of regular cleanings and fluoride treatments in preventing tooth problems?
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What is a possible reason for a child to have trouble swallowing or develop respiratory problems?
What is a possible reason for a child to have trouble swallowing or develop respiratory problems?
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What is the purpose of genetic testing for Tay-Sachs disease?
What is the purpose of genetic testing for Tay-Sachs disease?
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How can genetic testing for Tay-Sachs disease be done?
How can genetic testing for Tay-Sachs disease be done?
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What is a common dental consideration for individuals with Tay-Sachs disease?
What is a common dental consideration for individuals with Tay-Sachs disease?
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What is a possible complication of Tay-Sachs disease in terms of oral hygiene?
What is a possible complication of Tay-Sachs disease in terms of oral hygiene?
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What is a possible way to prevent Tay-Sachs disease?
What is a possible way to prevent Tay-Sachs disease?
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What is the primary system affected by Tay-Sachs disease?
What is the primary system affected by Tay-Sachs disease?
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What is the purpose of a feeding tube in relation to Tay-Sachs disease?
What is the purpose of a feeding tube in relation to Tay-Sachs disease?
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Study Notes
Overview of Tay-Sachs Disease
- 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 called gangliosides.
- These gangliosides build up to toxic levels in the brain and spinal cord, affecting the function of nerve cells.
Genetic Basis
- Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of the HEXA gene on chromosome 15.
- The HEXA gene codes for the alpha subunit of the enzyme β-hexosaminidase A, which breaks down GM2 ganglioside.
- Mutations in the HEXA gene can result in reduced or absent activity of the Hex-A enzyme, leading to the accumulation of GM2 ganglioside within nerve cells.
Types of Tay-Sachs Disease
- Infantile Tay-Sachs: the most common form, develops soon after birth, and causes death early in childhood; often passes away before the age of 5.
- Juvenile Tay-Sachs: affects children ages 2 and older, progresses more slowly than the infantile form, and children don't live beyond their mid-teens.
- Late-onset Tay-Sachs: a rare and milder form, starts between puberty and the mid-30s, and some people may live a normal lifespan.
Symptoms and Causes
- Symptoms vary in severity and type of Tay-Sachs disease and may become more pronounced as the disease progresses.
- Common symptoms include:
- Developmental delay
- Muscle weakness
- Loss of motor skills
- Increased startle response
- Hypotonia
- Seizures
- Vision and hearing loss
- Cherry-red spot on the retina
Diagnosis
- Diagnosis involves:
- HEX-A blood test to check the levels of hexosaminidase enzyme in the blood.
- Genetic testing to examine the HEXA gene for changes that indicate Tay-Sachs disease.
- Eye exam to detect a cherry-red spot in the back of the eyes.
Treatment and Management
- There is no cure for Tay-Sachs disease, but treatment is supportive of symptoms.
- Medications can be prescribed to manage seizures, and other treatment measures include providing proper nutrition and hydration.
- Respiratory care, including chest physiotherapy and medications to reduce saliva production, can help manage respiratory problems.
- Assistive feeding devices, such as feeding tubes, may be necessary to prevent respiratory problems.
Prevention and Genetic Counseling
- Prevention of Tay-Sachs disease involves genetic counseling and testing for carriers of the Tay-Sachs gene.
- Genetic testing can help identify carriers and provide information for family planning decisions.
- Genetic counseling is important for individuals who are carriers of the Tay-Sachs gene to understand the risks and options available.
Oral and Dental Manifestations
- Dental caries (tooth decay) and periodontal disease (gum disease) can be concerns for individuals with Tay-Sachs disease.
- Special care, including gentle and careful handling, is necessary for dental check-ups and treatments.
- Prevention measures, such as regular cleanings and fluoride treatments, can help prevent tooth problems.
- Dentists need to work together with doctors to plan the best care for patients with Tay-Sachs disease.
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Description
Tay-Sachs is a rare genetic disorder caused by the absence of an enzyme that helps break down fatty substances, leading to toxic buildup in the brain and spinal cord. It's an autosomal recessive disease caused by mutations in the HEXA gene.