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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?
What is the life expectancy of children with Juvenile Tay-Sachs?
What is a common symptom of Tay-Sachs disease?
What is a common symptom of Tay-Sachs disease?
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 most common form of Tay-Sachs disease?
What is the most common form of Tay-Sachs disease?
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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 a characteristic of Late-onset Tay-Sachs disease?
What is a characteristic of Late-onset 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 the purpose of the HEX-A blood test?
What is the purpose of the HEX-A blood test?
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What is a sign of Tay-Sachs disease that can be seen during an eye exam?
What is a sign of Tay-Sachs disease that can be seen during an eye exam?
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What is the goal of treatment for Tay-Sachs disease?
What is the goal of treatment for Tay-Sachs disease?
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Why is chest physiotherapy (CPT) used in Tay-Sachs patients?
Why is chest physiotherapy (CPT) used in Tay-Sachs patients?
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What can a healthcare provider recommend to help prepare for the loss of a child with Tay-Sachs disease?
What can a healthcare provider recommend to help prepare for the loss of a child with Tay-Sachs disease?
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What is not a cure for Tay-Sachs disease?
What is not a cure for Tay-Sachs disease?
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What is a benefit of providing proper nutrition and hydration to Tay-Sachs patients?
What is a benefit of providing proper nutrition and hydration to Tay-Sachs patients?
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What is the purpose of medications to reduce saliva production in Tay-Sachs patients?
What is the purpose of medications to reduce saliva production in Tay-Sachs patients?
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What is the primary cause of Tay-Sachs disease?
What is the primary 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 effect of the buildup of gangliosides in the brain and spinal cord?
What is the effect of the buildup of gangliosides in the brain and spinal cord?
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What is the usual outcome for children with the most common and severe form of Tay-Sachs disease?
What is the usual outcome for children with the most common and severe form of Tay-Sachs disease?
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What is the genetic basis of Tay-Sachs disease?
What is the genetic basis of Tay-Sachs disease?
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What is the function of the Hex-A enzyme?
What is the function of the Hex-A enzyme?
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What is the typical outcome for individuals who carry only one mutated copy of the HEXA gene?
What is the typical outcome for individuals who carry only one mutated copy of the HEXA gene?
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Who is recommended to undergo genetic testing and genetic counseling?
Who is recommended to undergo genetic testing and genetic counseling?
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What does a dentist need to be during check-ups and treatments for patients with Tay-Sachs disease?
What does a dentist need to be during check-ups and treatments for patients with Tay-Sachs disease?
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What can regular cleanings and fluoride treatments help prevent?
What can regular cleanings and fluoride treatments help prevent?
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Why is it important for dentists to be careful when giving medicine to patients with Tay-Sachs disease?
Why is it important for dentists to be careful when giving medicine to patients with Tay-Sachs disease?
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Why is it important for dentists and doctors to work together when treating patients with Tay-Sachs disease?
Why is it important for dentists and doctors to work together when treating patients with Tay-Sachs disease?
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What is a key aspect of dental care for patients with Tay-Sachs disease?
What is a key aspect of dental care for patients with Tay-Sachs disease?
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Why is special care required for patients with Tay-Sachs disease?
Why is special care required for patients with Tay-Sachs disease?
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What is the purpose of a feeding tube in a child with swallowing difficulties?
What is the purpose of a feeding tube in a child with swallowing difficulties?
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What is the primary function of genetic testing in relation to Tay-Sachs disease?
What is the primary function of genetic testing in relation to Tay-Sachs disease?
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Why may individuals with Tay-Sachs disease be more prone to dental caries?
Why may individuals with Tay-Sachs disease be more prone to dental caries?
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What is a gastrostomy tube?
What is a gastrostomy tube?
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How can genetic testing for Tay-Sachs disease be performed?
How can genetic testing for Tay-Sachs disease be performed?
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What is a common oral manifestation of Tay-Sachs disease?
What is a common oral manifestation of Tay-Sachs disease?
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Why may individuals with Tay-Sachs disease be at higher risk for periodontal disease?
Why may individuals with Tay-Sachs disease be at higher risk for periodontal disease?
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What is the primary focus of Tay-Sachs disease?
What is the primary focus of 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
A rare genetic disorder caused by the absence of an enzyme, leading to toxic build-up in the brain and spinal cord. Symptoms appear around 3-6 months of age.
