Materiały źródłowe

• #1 Tay-Sachs Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK564432/

  Tay-Sachs disease is a fatal, inherited neurodegenerative disorder caused by a deficiency in the enzyme hexosaminidase-A, leading to progressive neuronal damage. […] Accurate diagnosis is critical for managing the disease effectively, allowing for appropriate supportive care and family counseling. […] Participants in the course gain essential knowledge about the clinical features of Tay-Sachs disease, emphasizing the importance of early recognition and diagnosis. […] They learn to perform comprehensive evaluations and utilize diagnostic tools, including enzyme activity measurement and genetic testing. […] The disease is classified into infantile, juvenile, and adult forms based on the age at presentation. Early diagnosis of Tay-Sachs is clinically challenging because of subtle clinical features and nonspecific biochemical findings. Accurate diagnosis is essential for proper management and reducing complications associated with the disease.

• #2 Tay-Sachs Early Detection and Diagnostic Procedures – Cure Tay-Sachs

  https://www.curetay-sachs.org/tay-sachs-early-detection-and-diagnostic-procedures/

  Tay-Sachs disease is a rare genetic disorder that affects nerve cells in the brain. It is a relentlessly progressive, currently incurable disorder that causes severe and irreversible damage to the central nervous system. Recognizing the importance of early detection and diagnosis is critical in managing this condition. […] Early detection of Tay-Sachs is vital for several reasons. Firstly, it allows for prompt and accurate medical management, offering the best possible care and support for the affected child. Secondly, early diagnosis enables families to make informed decisions about future pregnancies, ensuring reproductive health planning and the ability to take advantage of various prenatal diagnostic options. Finally, it provides access to ongoing research and clinical trials which may one day lead to a cure.

• #3 Tay-Sachs disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/diagnosis-treatment/drc-20378193

  To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam. Your child may need to see a neurologist and an ophthalmologist for nervous system and eye examinations. […] Your health care provider may order the following tests: […] Diagnostic blood test. The blood test checks the levels of hexosaminidase A enzyme in the blood. The levels are low or absent in Tay-Sachs disease. […] Genetic testing. This test can examine the HEXA gene to identify whether there are changes that indicate Tay-Sachs disease. […] Eye exam. During an eye exam, the health care provider may see a cherry-red spot in the back of the eyes, which is a sign of the disease. […] Prenatal testing for Tay-Sachs disease can be done during pregnancy by removing a tiny piece of the placenta (chorionic villi sampling) or by removing a small sample of the amniotic fluid around the baby (amniocentesis).

• #4 Tay-Sachs Disease: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14348-tay-sachs-disease

  Tay-Sachs disease is a genetic condition that causes damage and, ultimately, the death of nerve cells (neurons) in your child’s brain and spinal cord. […] A healthcare provider will diagnose Tay-Sachs disease after a blood test. To perform this test, a healthcare provider will remove a small sample of blood from your child’s body, either their heel or a vein in their arm. Their provider will measure the level of the enzyme hexosaminidase A in the blood sample. In a child with classic Tay-Sachs disease, this protein is mostly or completely missing. People diagnosed with other forms of the disease have low levels of this enzyme. […] Two specialized tests can diagnose Tay-Sachs disease during pregnancy: Amniocentesis: Your healthcare provider will remove a sample of amniotic fluid (the fluid that surrounds a fetus in your uterus) to test it. Chorionic villus sampling (CVS): Your healthcare provider will remove a small piece of tissue from the placenta to test it.

• #5 Hexosaminidase A and Total Hexosaminidase, Serum – Mayo Clinic Laboratories | Genetics and Genomics

  https://genetics.testcatalog.org/show/NAGS

  Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease. […] Testing for Tay-Sachs Disease and Sandhoff Disease. […] The following tests are available for diagnostic and carrier testing for Tay-Sachs and Sandhoff diseases. […] This is the recommended test for carrier testing for Tay-Sachs disease and Sandhoff disease. […] This test can be used for diagnosis and carrier testing for Tay-Sachs disease or Sandhoff disease. […] This test can be used for diagnosis and carrier testing for Tay-Sachs disease or Sandhoff disease. […] This test is particularly useful when it is difficult to obtain enough blood to perform leukocyte testing (NAGR or NAGW), as may be the case with infants. […] This is the recommended test for diagnosis and carrier testing for the B1 variant of Tay-Sachs disease.

• #6 Tay-Sachs Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK564432/

  The first step in the evaluation involves the demonstration of Hex A and total Hexosaminidase levels in the serum. Individuals with the infantile form of Tay-Sachs disease have no or extremely low enzyme activity (0% to 5%) in addition to normal or elevated Beta hexosaminidase levels (HEX B isoenzyme). Individuals with juvenile or adult forms have low enzyme activity (10% to 15%). If the initial testing shows reduced enzyme activity and the patient is from an Azheknazi or French Canadian background, consider targeted gene testing. […] The first step in carrier testing for Ashkenazi Jewish ancestry depends on whether comprehensive Ashkenazi Jewish carrier screening is desired or only Tay-Sachs screening is required. […] Molecular genetic testing includes sequencing, targeted analysis for pathogenic variants, and deletion/duplication analysis. The targeted analysis is performed if the enzyme activity is absent or low on the initial assay.

• #7 Tay-Sachs Disease: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14348-tay-sachs-disease

  Tay-Sachs disease is a genetic condition that causes damage and, ultimately, the death of nerve cells (neurons) in your child’s brain and spinal cord. […] A healthcare provider will diagnose Tay-Sachs disease after a blood test. To perform this test, a healthcare provider will remove a small sample of blood from your child’s body, either their heel or a vein in their arm. Their provider will measure the level of the enzyme hexosaminidase A in the blood sample. In a child with classic Tay-Sachs disease, this protein is mostly or completely missing. People diagnosed with other forms of the disease have low levels of this enzyme. […] Two specialized tests can diagnose Tay-Sachs disease during pregnancy: Amniocentesis: Your healthcare provider will remove a sample of amniotic fluid (the fluid that surrounds a fetus in your uterus) to test it. Chorionic villus sampling (CVS): Your healthcare provider will remove a small piece of tissue from the placenta to test it.

• #8 Prenatal Diagnosis of Tay-Sachs Disease – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30506202/

  Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of GM2 gangliosides. […] Carrier screening and prenatal testing for TSD are effective in preventing the birth of affected fetuses greatly diminishing the incidence of TSD. Testing of targeted HEXA mutations by genotyping or sequencing can detect 98% of carriers in AJ individuals; however, the detection rate is much lower for most other ethnic groups. […] In the event of unknown mutational status or the presence of variants of unknown significance (VUS), enzyme analysis must be performed in conjunction with DNA-based assays to enhance the diagnostic accuracy. Enzymatic assays involve the use of synthetic substrates 4-methylumbelliferyl-N-acetyl–glucosamine (4-MUG) and 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy–D-glucopyranoside (4-MUGS) to measure the percentage Hex A activity (Hex A%) and specific Hex A activity respectively. These biochemical and molecular tests can be performed in both direct specimens and cultured cells from chorionic villi sampling or amniocentesis.

• #9 Prenatal Diagnosis of Tay-Sachs Disease | Springer Nature Experiments

  https://experiments.springernature.com/articles/10.1007/978-1-4939-8889-1_16

  Enzymatic assays involve the use of synthetic substrates 4-methylumbelliferyl-N-acetyl–glucosamine (4-MUG) and 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy–d-glucopyranoside (4-MUGS) to measure the percentage Hex A activity (Hex A%) and specific Hex A activity respectively. […] These biochemical and molecular tests can be performed in both direct specimens and cultured cells from chorionic villi sampling or amniocentesis.

• #10 Tay-Sachs disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/diagnosis-treatment/drc-20378193

  To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam. Your child may need to see a neurologist and an ophthalmologist for nervous system and eye examinations. […] Your health care provider may order the following tests: […] Diagnostic blood test. The blood test checks the levels of hexosaminidase A enzyme in the blood. The levels are low or absent in Tay-Sachs disease. […] Genetic testing. This test can examine the HEXA gene to identify whether there are changes that indicate Tay-Sachs disease. […] Eye exam. During an eye exam, the health care provider may see a cherry-red spot in the back of the eyes, which is a sign of the disease. […] Prenatal testing for Tay-Sachs disease can be done during pregnancy by removing a tiny piece of the placenta (chorionic villi sampling) or by removing a small sample of the amniotic fluid around the baby (amniocentesis).

• #11 Invitae Tay-Sachs Disease Test | Test catalog | Invitae

  https://www.invitae.com/us/providers/test-catalog/test-04719

  The Invitae Tay-Sachs Disease test analyzes HEXA, the gene known to be associated with Tay-Sachs disease (TSD). […] A genetic diagnosis of TSD can identify the specific subtype of the disease, guide medical management, and help predict disease progression and outcome for the patient. […] Approximately 99% of individuals with Tay-Sachs disease have two identifiable pathogenic variants in the HEXA gene. […] Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). […] Based on validation study results, this assay achieves 99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions 15bp in length, and exon-level deletions and duplications.

• #12 What tests support a diagnosis of Tay-Sachs disease? – ThinkGenetic Foundation

  https://thinkgenetic.org/qa/what-tests-support-a-diagnosis-of-tay-sachs-disease/

  There are different tests that can be used to diagnose Tay-Sachs disease. An enzyme assay is standard for diagnosing this disorder. An enzyme assay is a test that measures the activity of an enzyme. Doctors take a blood sample and send it off to a lab where they measure the sample for hexosaminidase A activity. If this enzyme is low or absent, that means a person has Tay-Sachs disease. […] Molecular genetic testing can also be used to confirm a diagnosis. These tests involve studying the HEXA gene for changes that cause the disorder. This can include sequence analysis, where a part or sequence of DNA within a gene is examined, or targeted mutation analysis, where the six most common mutations in the HEXA gene that cause Tay-Sachs disease are searched for, or deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories. […] There are more tests a doctor might perform when assessing someone for Tay-Sachs disease. These may be done to detect or assess specific symptoms. For example, an eye exam may reveal cherry red spots on the retina.

• #13 About Tay-Sachs Disease

  https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease

  A simple blood test can identify Tay-Sachs carriers. Blood samples can be analyzed by either enzyme assay or DNA studies. The enzyme assay is a biochemical test that measures the level of Hex-A in a person’s blood. Carriers have less Hex-A in their body fluid and cells than non-carriers. […] DNA-based carrier testing looks for specific mutations or changes in the gene that codes for Hex-A. Since 1985, when the Hex-A gene was isolated, more than 50 different mutations in this gene have been identified. Nevertheless, some mutations are not yet known. The current tests detect about 95 percent of carriers of Ashkenazi Jewish background and about 60 percent of carriers in the general population. […] If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus tested for Tay-Sachs. Extensive carrier testing of Ashkenazi Jews has significantly reduced the number of Tay-Sachs children in this population group. Today most cases of Tay-Sachs disease occur in populations thought not to be at high risk.

• #14 What tests support a diagnosis of Tay-Sachs disease? – ThinkGenetic Foundation

  https://thinkgenetic.org/qa/what-tests-support-a-diagnosis-of-tay-sachs-disease/

  There are different tests that can be used to diagnose Tay-Sachs disease. An enzyme assay is standard for diagnosing this disorder. An enzyme assay is a test that measures the activity of an enzyme. Doctors take a blood sample and send it off to a lab where they measure the sample for hexosaminidase A activity. If this enzyme is low or absent, that means a person has Tay-Sachs disease. […] Molecular genetic testing can also be used to confirm a diagnosis. These tests involve studying the HEXA gene for changes that cause the disorder. This can include sequence analysis, where a part or sequence of DNA within a gene is examined, or targeted mutation analysis, where the six most common mutations in the HEXA gene that cause Tay-Sachs disease are searched for, or deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories. […] There are more tests a doctor might perform when assessing someone for Tay-Sachs disease. These may be done to detect or assess specific symptoms. For example, an eye exam may reveal cherry red spots on the retina.

• #15 NAGR – Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

  https://www.mayocliniclabs.com/test-catalog/overview/82943

  Carrier detection and diagnosis of Tay-Sachs disease […] The following tests are available for diagnostic and carrier testing for Tay-Sachs and Sandhoff diseases. […] This is the recommended test for carrier testing for Tay-Sachs disease and Sandhoff disease. […] Testing begins with hexosaminidase A and total enzyme analysis. If the results are consistent with an affected or carrier for Tay-Sachs disease or Sandhoff disease, next generation sequencing to detect single nucleotide and copy number variants for HEXA or HEXB, respectively, will automatically be performed on the original specimen. […] This test is particularly useful when it is difficult to obtain enough blood to perform leukocyte testing (NAGR or NAGW), as may be the case with infants. […] This test should not be ordered as a first-line test. Rather, this test should be ordered when the NAGR, NAGW, NAGS indicate normal, indeterminate, or carrier results and the suspicion of Tay-Sachs disease remains high.

• #16 NAGR – Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

  https://www.mayocliniclabs.com/test-catalog/overview/82943

  Several tests are available for the detection of carriers of, and individuals affected with, Tay-Sachs and Sandhoff diseases. […] Follow-up molecular testing is recommended for all individuals with enzyme results in the carrier, possible carrier, or affected ranges. […] This differentiates between nondisease causing pseudodeficiency alleles and disease-causing variants. […] In addition, molecular analysis allows for the facilitation of carrier testing and prenatal diagnosis for at-risk individuals.

• #17 Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication | Test Fact Sheet

  https://arupconsult.com/ati/tay-sachs-disease-testing

  Massively Parallel Sequencing is used to confirm pathogenic and pseudodeficiency HEXA gene variants in individuals with abnormal levels of HEX A enzyme, a suspected diagnosis of HEXA deficiency, and/or suspected carrier status. […] Screening for Tay-Sachs carrier status should be performed for individuals from high-risk populations, especially those of Ashkenazi Jewish or French Canadian descent. Molecular testing can identify pathogenic and pseudodeficiency HEXA gene variant(s) in individuals with abnormal HEX A activity. […] This assay detects the 7.6kb deletion at a reduced sensitivity. Therefore, individuals of French Canadian descent may benefit from targeted screening; refer to the Laboratory Test Directory for available test options. […] A negative result does not exclude a diagnosis of Tay-Sachs disease. […] Diagnostic errors can occur due to rare sequence variants. […] Interpretation of this test may be impacted if this patient has had an allogeneic stem cell transplantation.

• #18 Tay-Sachs disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/diagnosis-treatment/drc-20378193

  To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam. Your child may need to see a neurologist and an ophthalmologist for nervous system and eye examinations. […] Your health care provider may order the following tests: […] Diagnostic blood test. The blood test checks the levels of hexosaminidase A enzyme in the blood. The levels are low or absent in Tay-Sachs disease. […] Genetic testing. This test can examine the HEXA gene to identify whether there are changes that indicate Tay-Sachs disease. […] Eye exam. During an eye exam, the health care provider may see a cherry-red spot in the back of the eyes, which is a sign of the disease. […] Prenatal testing for Tay-Sachs disease can be done during pregnancy by removing a tiny piece of the placenta (chorionic villi sampling) or by removing a small sample of the amniotic fluid around the baby (amniocentesis).

• #19 Tay–Sachs disease – Wikipedia

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

  TaySachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15, which codes a subunit of the hexosaminidase enzyme known as hexosaminidase A. […] Diagnosis may be supported by measuring the blood hexosaminidase A level or genetic testing. […] In patients with a clinical suspicion of TaySachs disease, with any age of onset, the initial testing involves an enzyme assay to measure the activity of hexosaminidase in serum, fibroblasts, or leukocytes. Total hexosaminidase enzyme activity is decreased in individuals with TaySachs as is the percentage of hexosaminidase A. After confirmation of decreased enzyme activity in an individual, confirmation by molecular analysis can be pursued. […] All patients with infantile-onset TaySachs disease have a „cherry red” macula in the retina, easily observable by a physician using an ophthalmoscope. This red spot is a retinal area that appears red because of gangliosides in the surrounding retinal ganglion cells.

• #20 Test for Tay-Sachs |

  https://test-for-tay-sachs.com/

  At the first sign of a developmental stop, refer the family to a paediatric consultant to perform a straight-forward blood test. […] Alternatively, refer them to an ophthalmologist to test for a macular cherry-red spot. […] Examination via ophthalmoscopy or slit lamp will reveal a cherry-red spot in the centre of the macula. […] The presence of a cherry-red spot in the macula increases the likelihood of the symptoms being due to Tay-Sachs, Sandhoff disease or another lysosomal storage disorder. […] Likely to both be responsible for making the diagnosis via history, examination and blood testing, but also counselling worried parents about what this means for the future development and needs of their child. […] The presence of a cherry-red spot in the macula increases the likelihood of the symptoms being due to Tay-Sachs, Sandhoff disease or another lysosomal storage disorder.

• #21 Tay-Sachs Disease: Symptoms, Causes, Treatment, Prevention

  https://www.webmd.com/parenting/baby/what-is-tay-sachs-disease

  Pregnant women can have a test to find out whether their unborn babies have the problem that causes Tay-Sachs. If the tests dont find any Hex-A protein, the baby has Tay-Sachs. If the tests find Hex-A, the baby doesnt have the disease. […] These tests include: […] To diagnose Tay-Sachs in a baby after its born: […] Your doctor will ask you about your babys symptoms and your family history. […] Theyll do a blood test to check Hex-A levels. […] The doctor will check the babys eyes. A cherry-red spot in the back of the eyes is a sign of Tay-Sachs. If its there, you may need to take your baby to specialists, such as a pediatric neurologist and an opthalmologist, for more tests.

• #22 Tay-Sachs disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/diagnosis-treatment/drc-20378193

  To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam. Your child may need to see a neurologist and an ophthalmologist for nervous system and eye examinations. […] Your health care provider may order the following tests: […] Diagnostic blood test. The blood test checks the levels of hexosaminidase A enzyme in the blood. The levels are low or absent in Tay-Sachs disease. […] Genetic testing. This test can examine the HEXA gene to identify whether there are changes that indicate Tay-Sachs disease. […] Eye exam. During an eye exam, the health care provider may see a cherry-red spot in the back of the eyes, which is a sign of the disease. […] Prenatal testing for Tay-Sachs disease can be done during pregnancy by removing a tiny piece of the placenta (chorionic villi sampling) or by removing a small sample of the amniotic fluid around the baby (amniocentesis).

• #23 Tay-Sachs Disease: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14348-tay-sachs-disease

  Tay-Sachs disease is a genetic condition that causes damage and, ultimately, the death of nerve cells (neurons) in your child’s brain and spinal cord. […] A healthcare provider will diagnose Tay-Sachs disease after a blood test. To perform this test, a healthcare provider will remove a small sample of blood from your child’s body, either their heel or a vein in their arm. Their provider will measure the level of the enzyme hexosaminidase A in the blood sample. In a child with classic Tay-Sachs disease, this protein is mostly or completely missing. People diagnosed with other forms of the disease have low levels of this enzyme. […] Two specialized tests can diagnose Tay-Sachs disease during pregnancy: Amniocentesis: Your healthcare provider will remove a sample of amniotic fluid (the fluid that surrounds a fetus in your uterus) to test it. Chorionic villus sampling (CVS): Your healthcare provider will remove a small piece of tissue from the placenta to test it.

• #24 Tay-Sachs Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK564432/

  Prenatal testing on fetal cells can be performed by chorionic villus sampling at 10 to 12 weeks of gestation or by amniocentesis at 15 to 18 weeks of gestation in families where the Hex A enzyme assay shows parents are heterozygous and molecular genetic testing has ruled out a pseudodeficiency allele in either parent. […] The classical clinical findings of progressive weakness with developmental delay or regression, inattentiveness, and exaggerated startle response with physical findings of a cherry-red spot, generalized hypotonia with sustained clonus, or hyperreflexia should warrant further evaluation for gangliosidoses.

• #25 About Tay-Sachs Disease

  https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease

  Prenatal testing for Tay-Sachs can be performed around the 11th week of pregnancy using chorionic villi sampling (CVS). This involves removing a tiny piece of the placenta. Alternatively, the fetus can be tested with amniocentesis around the 16th week of pregnancy. In this procedure, a needle is used to remove and test a sample of the fluid surrounding the baby. […] Assisted reproductive therapy is an option for carrier couples who don’t want to risk giving birth to a child with Tay-Sachs. This new technique used in conjunction with in-vitro fertilization enables parents who are Tay-Sachs carriers to give birth to healthy babies. Embryos created in-vitro are tested for Tay-Sachs genetic mutations before being implanted into the mother, allowing only healthy embryos to be selected.

• #26 Tay-Sachs Disease: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14348-tay-sachs-disease

  Both tests look for the enzyme hexosaminidase A. If there’s a below-average amount of this enzyme in the testing samples, your healthcare provider will diagnose the fetus with Tay-Sachs disease. In addition, they may perform a genetic test on these samples to identify a mutation in the HEXA gene, which causes the condition.

• #27 Tay-Sachs disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/symptoms-causes/syc-20378190

  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. […] 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.

• #28 Tay-Sachs Early Detection and Diagnostic Procedures – Cure Tay-Sachs

  https://www.curetay-sachs.org/tay-sachs-early-detection-and-diagnostic-procedures/

  The American College of Obstetricians and Gynecologists (ACOG) recommends that those of Ashkenazi Jewish descent should undergo carrier screening for Tay-Sachs disease, as it is more prevalent in this population. Carrier screening is also recommended for those of French-Canadian, Irish, or Cajun descent. This screening can occur before pregnancy, during early pregnancy, or during fetal evaluation. Early and universal carrier screening is a powerful tool to identify those at risk and has contributed to a significant decrease in the number of cases seen in the Ashkenazi Jewish community. […] If you or your partner’s carrier screening results indicate a high risk for having a child with Tay-Sachs, diagnostic tests such as amniocentesis, chorionic villus sampling (CVS), and non-invasive prenatal testing (NIPT) can provide more information. Through genetic analysis, these tests can determine whether the fetus has inherited the disease. After birth, a doctor can perform a blood test to find out if a child has Tay-Sachs, and additional tests can help confirm the diagnosis and determine the type of Tay-Sachs disease present.

• #29 Tay-Sachs disease – symptoms, causes, diagnosis & treatment | healthdirect

  https://www.healthdirect.gov.au/tay-sachs-disease

  Tay-Sachs disease is a genetic disorder caused by a deficiency in an enzyme that is needed for the brain to function properly. […] Tay-Sachs disease is more common in some ethnic groups, and there are genetic screening programs offered for these groups. […] If you are of Jewish Ashkenazi descent and are planning a family, see your doctor to discuss genetic screening. […] In Australia, there are genetic screening programs offered for high school students of Ashkenazi Jewish heritage, who have a 1 in 25 chance of carrying a faulty HEXA gene. […] Your doctor may suspect Tay-Sachs disease after asking about your child’s symptoms and examining them. The diagnosis can be confirmed with a blood test.

• #30 About Tay-Sachs Disease

  https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease

  A simple blood test can identify Tay-Sachs carriers. Blood samples can be analyzed by either enzyme assay or DNA studies. The enzyme assay is a biochemical test that measures the level of Hex-A in a person’s blood. Carriers have less Hex-A in their body fluid and cells than non-carriers. […] DNA-based carrier testing looks for specific mutations or changes in the gene that codes for Hex-A. Since 1985, when the Hex-A gene was isolated, more than 50 different mutations in this gene have been identified. Nevertheless, some mutations are not yet known. The current tests detect about 95 percent of carriers of Ashkenazi Jewish background and about 60 percent of carriers in the general population. […] If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus tested for Tay-Sachs. Extensive carrier testing of Ashkenazi Jews has significantly reduced the number of Tay-Sachs children in this population group. Today most cases of Tay-Sachs disease occur in populations thought not to be at high risk.

• #31 About Tay-Sachs Disease

  https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease

  A simple blood test can identify Tay-Sachs carriers. Blood samples can be analyzed by either enzyme assay or DNA studies. The enzyme assay is a biochemical test that measures the level of Hex-A in a person’s blood. Carriers have less Hex-A in their body fluid and cells than non-carriers. […] DNA-based carrier testing looks for specific mutations or changes in the gene that codes for Hex-A. Since 1985, when the Hex-A gene was isolated, more than 50 different mutations in this gene have been identified. Nevertheless, some mutations are not yet known. The current tests detect about 95 percent of carriers of Ashkenazi Jewish background and about 60 percent of carriers in the general population. […] If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus tested for Tay-Sachs. Extensive carrier testing of Ashkenazi Jews has significantly reduced the number of Tay-Sachs children in this population group. Today most cases of Tay-Sachs disease occur in populations thought not to be at high risk.

• #32 Tay-Sachs disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/tay-sachs-disease/

  Tay-Sachs disease is a rare, inherited disorder that is characterized by neurological problems caused by the death of nerve cells (neurons) in the brain and spinal cord (central nervous system). […] An eye abnormality called a cherry-red spot, which is identified by eye examination, is characteristic of this disorder. […] Two other forms of Tay-Sachs disease, known as juvenile and late-onset, are rare. […] Characteristic features of juvenile or late-onset Tay-Sachs disease include muscle weakness, loss of muscle coordination (ataxia), speech problems, and psychiatric symptoms. […] Tay-Sachs disease is very rare in the general population. […] However, increased education and genetic testing efforts in these at-risk communities have reduced the incidence of this condition in those populations.

• #33 Tay-Sachs Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK564432/

  Prenatal testing on fetal cells can be performed by chorionic villus sampling at 10 to 12 weeks of gestation or by amniocentesis at 15 to 18 weeks of gestation in families where the Hex A enzyme assay shows parents are heterozygous and molecular genetic testing has ruled out a pseudodeficiency allele in either parent. […] The classical clinical findings of progressive weakness with developmental delay or regression, inattentiveness, and exaggerated startle response with physical findings of a cherry-red spot, generalized hypotonia with sustained clonus, or hyperreflexia should warrant further evaluation for gangliosidoses.

• #34 Tay-Sachs Disease (for Parents) – Nicklaus Children’s Hospital

  https://kidshealth.org/NicklausChildrens/en/parents/tay-sachs.html

  A doctor may suspect Tay-Sachs when a baby has movement problems or stops doing things they used to do, like crawling or sitting up. Doctors can diagnose the condition by doing an exam and ordering blood tests. […] Before or during a pregnancy, couples can get screened for the Tay-Sachs gene with a simple blood test. If both carry the Tay-Sachs gene, a genetic counselor can provide more information. […] Pregnant women can have their unborn babies tested for Tay-Sachs disease through chorionic villus sampling (CVS) or amniocentesis.

• #35 Tay-Sachs Disease – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/tay-sachs-disease/

  Tay-Sachs disease (TSD) is a rare neurological disease in which the functions of the nervous system continually get worse. The most common form of TSD is diagnosed early in the first year of life. […] TSD is a genetic disease caused by a change in the HEXA gene. […] The first step is a neurological exam. This can identify common TSD findings, including: Low muscle tone, Abnormal reflexes, Exaggerated startle response, Loss of developmental milestones. […] The next step is a blood test to measure levels of the enzyme made by the HEXA gene. […] A child’s doctor may order specific genetic tests. These tests can look for the most common variations in the HEXA gene that can cause TSD. […] Parents can be tested before having a baby to see if they are carriers of TSD. Testing can also be performed on fetal cells in the womb using one of two methods: Chorionic villus sampling (taking a small sample of the placenta) or Amniocentesis (using a needle to remove a small amount of the amniotic fluid).

• #36 Tay-Sachs disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/symptoms-causes/syc-20378190

  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. […] 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.

• #37 Tay-Sachs Early Detection and Diagnostic Procedures – Cure Tay-Sachs

  https://www.curetay-sachs.org/tay-sachs-early-detection-and-diagnostic-procedures/

  Genetic counseling is a crucial step in the early detection process. This service provides information and support to individuals and families who have genetic conditions or who may be at risk for them. Genetic counselors can help you understand your risk for having a child with Tay-Sachs and discuss the options available for prenatal and preimplantation testing to reduce your risk.

• #38 Tay-Sachs Disease: Causes, Symptoms, Diagnosis, and Treatment • Yesil Health

  https://yesilhealth.com/your-health/tay-sachs-disease-causes-symptoms-diagnosis-and-treatment/

  Prenatal diagnosis: Chorionic villus sampling (CVS) or amniocentesis can detect Tay-Sachs disease in a fetus during pregnancy. […] Genetic counseling is essential for families affected by Tay-Sachs disease. A genetic counselor can help: […] Interpret test results […] Explain the risk of passing the disease to offspring […] Discuss reproductive options, such as prenatal diagnosis or preimplantation genetic diagnosis (PGD) […] Provide emotional support and connect families with resources and support groups. […] Tay-Sachs disease can be diagnosed through a combination of clinical evaluation, genetic testing, and enzyme assays. Genetic testing can identify carriers of the mutated gene, and enzyme assays can measure the level of hexosaminidase A enzyme activity in the blood.

• #39 Test for Tay-Sachs |

  https://test-for-tay-sachs.com/

  At the first sign of a developmental stop, refer the family to a paediatric consultant to perform a straight-forward blood test. […] Alternatively, refer them to an ophthalmologist to test for a macular cherry-red spot. […] Examination via ophthalmoscopy or slit lamp will reveal a cherry-red spot in the centre of the macula. […] The presence of a cherry-red spot in the macula increases the likelihood of the symptoms being due to Tay-Sachs, Sandhoff disease or another lysosomal storage disorder. […] Likely to both be responsible for making the diagnosis via history, examination and blood testing, but also counselling worried parents about what this means for the future development and needs of their child. […] The presence of a cherry-red spot in the macula increases the likelihood of the symptoms being due to Tay-Sachs, Sandhoff disease or another lysosomal storage disorder.

• #40 Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.726

  The earlier the recognition of the disease and the higher the chance of preventing further irreversible neuronal degeneration, once treatments will be available. […] Diagnostic tips, such as the triceps sign, distinct speech patterns, early psychiatric presentation and impulsivity, as well as neurological symptoms (cerebellar or neuromuscular) in patients with a prominent psychiatric presentation, are described. […] The most common misdiagnosis was neuromuscular disorders in 4/9 of the cases. A cerebellar syndrome was initially suspected in one patient and psychiatric disorders in two cases. […] The presence of atypical features (i.e. associated cerebellar signs), and/or predominant proximal weakness (triceps and quadriceps weakness) should prompt adding LOTS in the list of differential diagnosis in these cases. […] Compared to other lysosomal storage disorders, such as Gaucher disease, there is no report of systemic involvement of this disorder.

• #41 Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.726

  Late-Onset Tay-Sachs (LOTS) disease is a rare, progressive neurological condition that can dramatically affect the life of these patients. The diagnosis of LOTS is easily missed because of the multifaced presentation of these patients, who can initially be assessed by neuromuscular or movement disorder specialists, or psychiatrists. […] Specific diagnostics clues can help neurologists and psychiatrists in the early diagnosis of LOTS disease. Our work also represent the first video presentation of a cohort of patients with LOTS that can help different specialists to familiarize with these features and improve diagnostic outcomes. […] It is important for clinicians to recognize LOTS to shorten the diagnostic journey for these patients, avoid expensive and invasive diagnostic tests (i.e. muscle biopsy, lumbar puncture, etc.), and provide proper monitoring and surveillance for the patient (i.e. screen for co-morbid psychiatric disorders).

• #42 Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.726

  The earlier the recognition of the disease and the higher the chance of preventing further irreversible neuronal degeneration, once treatments will be available. […] Diagnostic tips, such as the triceps sign, distinct speech patterns, early psychiatric presentation and impulsivity, as well as neurological symptoms (cerebellar or neuromuscular) in patients with a prominent psychiatric presentation, are described. […] The most common misdiagnosis was neuromuscular disorders in 4/9 of the cases. A cerebellar syndrome was initially suspected in one patient and psychiatric disorders in two cases. […] The presence of atypical features (i.e. associated cerebellar signs), and/or predominant proximal weakness (triceps and quadriceps weakness) should prompt adding LOTS in the list of differential diagnosis in these cases. […] Compared to other lysosomal storage disorders, such as Gaucher disease, there is no report of systemic involvement of this disorder.

• #43 Tay-Sachs Early Detection and Diagnostic Procedures – Cure Tay-Sachs

  https://www.curetay-sachs.org/tay-sachs-early-detection-and-diagnostic-procedures/

  Tay-Sachs disease is a rare genetic disorder that affects nerve cells in the brain. It is a relentlessly progressive, currently incurable disorder that causes severe and irreversible damage to the central nervous system. Recognizing the importance of early detection and diagnosis is critical in managing this condition. […] Early detection of Tay-Sachs is vital for several reasons. Firstly, it allows for prompt and accurate medical management, offering the best possible care and support for the affected child. Secondly, early diagnosis enables families to make informed decisions about future pregnancies, ensuring reproductive health planning and the ability to take advantage of various prenatal diagnostic options. Finally, it provides access to ongoing research and clinical trials which may one day lead to a cure.

• #44 Tay-Sachs Early Detection and Diagnostic Procedures – Cure Tay-Sachs

  https://www.curetay-sachs.org/tay-sachs-early-detection-and-diagnostic-procedures/

  The American College of Obstetricians and Gynecologists (ACOG) recommends that those of Ashkenazi Jewish descent should undergo carrier screening for Tay-Sachs disease, as it is more prevalent in this population. Carrier screening is also recommended for those of French-Canadian, Irish, or Cajun descent. This screening can occur before pregnancy, during early pregnancy, or during fetal evaluation. Early and universal carrier screening is a powerful tool to identify those at risk and has contributed to a significant decrease in the number of cases seen in the Ashkenazi Jewish community. […] If you or your partner’s carrier screening results indicate a high risk for having a child with Tay-Sachs, diagnostic tests such as amniocentesis, chorionic villus sampling (CVS), and non-invasive prenatal testing (NIPT) can provide more information. Through genetic analysis, these tests can determine whether the fetus has inherited the disease. After birth, a doctor can perform a blood test to find out if a child has Tay-Sachs, and additional tests can help confirm the diagnosis and determine the type of Tay-Sachs disease present.

• #45 Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.726

  Late-Onset Tay-Sachs (LOTS) disease is a rare, progressive neurological condition that can dramatically affect the life of these patients. The diagnosis of LOTS is easily missed because of the multifaced presentation of these patients, who can initially be assessed by neuromuscular or movement disorder specialists, or psychiatrists. […] Specific diagnostics clues can help neurologists and psychiatrists in the early diagnosis of LOTS disease. Our work also represent the first video presentation of a cohort of patients with LOTS that can help different specialists to familiarize with these features and improve diagnostic outcomes. […] It is important for clinicians to recognize LOTS to shorten the diagnostic journey for these patients, avoid expensive and invasive diagnostic tests (i.e. muscle biopsy, lumbar puncture, etc.), and provide proper monitoring and surveillance for the patient (i.e. screen for co-morbid psychiatric disorders).

• #46 About Tay-Sachs Disease

  https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease

  Prenatal testing for Tay-Sachs can be performed around the 11th week of pregnancy using chorionic villi sampling (CVS). This involves removing a tiny piece of the placenta. Alternatively, the fetus can be tested with amniocentesis around the 16th week of pregnancy. In this procedure, a needle is used to remove and test a sample of the fluid surrounding the baby. […] Assisted reproductive therapy is an option for carrier couples who don’t want to risk giving birth to a child with Tay-Sachs. This new technique used in conjunction with in-vitro fertilization enables parents who are Tay-Sachs carriers to give birth to healthy babies. Embryos created in-vitro are tested for Tay-Sachs genetic mutations before being implanted into the mother, allowing only healthy embryos to be selected.

• #47 Family Planning – NTSAD

  https://ntsad.org/support-for-families/family-planning/

  Prenatal testing for Tay-Sachs, Canavan, GM1, and Sandhoff disease can be done during pregnancy when parents are known to be carriers. There are two tests that can determine if the pregnancy is affected by these rare diseases. […] If you and your partner are carriers and would like to undergo prenatal testing, discuss the procedure with your clinician, OB-GYN, or genetic counselor. […] If you and your partner are carriers of Tay-Sachs, Canavan, GM1, or Sandhoff disease, you might want to consider assisted reproductive technology when starting a family. […] Preimplantation Genetic Diagnosis (PDG) is a type of testing done as part of in vitro fertilization (IVF) treatment. PDG takes place after the eggs have been retrieved and fertilized in the first stages of IVF. During the procedure, cells from five-day-old embryos are tested for Tay-Sachs, Canavan, GM1, and Sandhoff disease.

• #48 Tay Sachs Disease – Symptoms, Causes & Risk | Max Hospital

  https://www.maxhealthcare.in/blogs/tay-sachs-disease-symptoms-causes

  In some regions, newborn screening programs exist to test for Tay-Sachs disease and other genetic disorders shortly after birth. This early screening allows for early intervention and supportive care if the disease is detected. […] It’s crucial to consult with a healthcare professional or a genetic counselor for proper evaluation, especially if there’s a family history or concern about Tay-Sachs disease. Early diagnosis enables timely interventions and appropriate management strategies for affected individuals and their families.

• #49 Tay-Sachs Disease

  https://lakecountyin.gov/departments/health/Nursing-Clinic/Diseases-and-Conditions/Genetic-Disorders/tay-sachs-disease

  Diagnosing Tay-Sachs Disease involves a combination of clinical evaluation, genetic testing, and laboratory tests: […] Hex-A Enzyme Assay: Measurement of Hex-A enzyme activity in blood or tissue samples. Low or absent enzyme activity is indicative of Tay-Sachs Disease. […] HEXA Gene Analysis: Testing for mutations in the HEXA gene to confirm the diagnosis and identify specific mutations. […] Eye examination to detect the characteristic cherry-red spot in the retina.

• #50 Tay-Sachs Disease: Causes, Symptoms, and Treatment

  https://www.medicoverhospitals.in/diseases/taysachs-disease/

  Diagnosis of Tay-Sachs disease involves a combination of clinical evaluation, biochemical tests, and genetic testing. […] Biochemical testing measures the activity of the Hex-A enzyme in blood or tissue samples. A significant reduction or absence of Hex-A activity is indicative of Tay-Sachs disease. […] Genetic testing confirms the diagnosis by identifying mutations in the HEXA gene. This is particularly important for carrier screening and prenatal diagnosis. […] Diagnosis is made through genetic testing, enzyme assay, or prenatal testing.

• #51 Prenatal Diagnosis of Tay-Sachs Disease – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30506202/

  Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of GM2 gangliosides. […] Carrier screening and prenatal testing for TSD are effective in preventing the birth of affected fetuses greatly diminishing the incidence of TSD. Testing of targeted HEXA mutations by genotyping or sequencing can detect 98% of carriers in AJ individuals; however, the detection rate is much lower for most other ethnic groups. […] In the event of unknown mutational status or the presence of variants of unknown significance (VUS), enzyme analysis must be performed in conjunction with DNA-based assays to enhance the diagnostic accuracy. Enzymatic assays involve the use of synthetic substrates 4-methylumbelliferyl-N-acetyl–glucosamine (4-MUG) and 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy–D-glucopyranoside (4-MUGS) to measure the percentage Hex A activity (Hex A%) and specific Hex A activity respectively. These biochemical and molecular tests can be performed in both direct specimens and cultured cells from chorionic villi sampling or amniocentesis.

• #52 Tay-Sachs Disease: Symptoms, Causes, Treatment

  https://resources.healthgrades.com/right-care/brain-and-nerves/tay-sachs-disease

  When symptoms suggest Tay-Sachs disease, doctors can make the diagnosis using blood tests. This includes testing to measure the level of HEXA and detect gene mutations. […] Prenatal testing is available in carrier families. Doctors can perform chorionic villus sampling at 10–12 weeks of gestation or amniocentesis at 15–18 weeks. […] Genetic counseling and screening have helped reduce the prevalence of Tay-Sachs disease in communities of Jewish people of Ashkenazi descent.

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