Tay-Sachs disease

In a family with Tay-Sachs disease, tests can be done to see whether other family members are carriers for the disorder. (Carriers do not have symptoms and have one working and one non-working copy of the HEXA gene.) However, the specific gene changes in that family needs to be known. If known, all siblings and other at-risk relatives can be tested. Molecular genetic testing, which are tests that look for changes to genes, can be performed. A newborn child in a family with a history of Tay-Sachs disease should be tested through molecular genetic testing. An enzyme assay, which is a test that can measure the activity of the hexosaminidase A enzyme in certain cells, can also be used to test at-risk family members). A genetic counselor or a physician with experience in Tay-Sachs disease can provide advice about how a confirmed diagnosis can affect other family members. Medical geneticists can be found through the American College of Medical Geneticists and a genetic counselor can be found through the National Society of Genetic Counselors.

Support groups can put you in contact with other people or families that have Tay-Sachs disease. Support groups include the National Tay-Sachs & Allied Diseases Association; the Cure Tay-Sachs Foundation; and the Cure & Action for Tay-Sachs Foundation.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

The medical cost of Tay-Sachs disease can be significant. Some families lack the resources necessary to provide for a chronically or terminally ill child. There are several organizations that provide financial assistance.

The Social Security Administration has a Compassionate Allowances Initiative. This program speeds up the processing of disability claims for people with specific medical conditions that cause severe disability. The classic, infantile form of Tay-Sachs disease is eligible for assistance under this program.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with Tay-Sachs disease. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for Tay-Sachs disease include: National Tay-Sachs and Allied Diseases Association, Inc., the Canadian Society for Mucopolysaccharide and Related Diseases, and the Center for Jewish Genetics.

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.

Talk to your doctor about what the results of these tests may mean in Tay-Sachs disease. To find a genetic medical professional nearby who can discuss information and testing, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Infants with Tay-Sachs disease usually do not have any obvious symptoms at birth. Initially, they may develop as would be expected. However, often between 3 and 6 months of age, symptoms will appear. Infants may lose previously acquired skills such as holding one’s head up, have difficulties with motor functions, and have a cherry red spot in their eyes. The first sign is often an exaggerated startle response, which means when an infant is startled the reaction is disproportionate to whatever startled him or her.

A few different therapies are being explored as potential treatments for Tay-Sachs disease. These include gene therapy, stem cell therapy, enzyme replacement therapy, substrate inhibition, and pharmalogical chaperone therapy. Gene therapy replaces the defective gene in a person with an unaffected one that can produce the necessary hexosaminidase A enzyme. As of October 2016, gene therapy has not been approved by the U.S. Food and Drug Administration for the treatment of any disorder. Enzyme replacement therapy replaces the hexosaminidase A enzyme with a synthetic version engineered in a laboratory. Enzyme replacement therapy has been successful in treating other lysosomal storage diseases, but has been ineffective so far for Tay-Sachs disease. Substrate reduction therapy refers to attempts to lower the levels of the toxic materials that build up in Tay-Sachs disease. Pharmacological chaperone therapy uses drugs that stabilize and guide (chaperone) an ineffective enzyme to the proper place so it can perform its normal functions.

Studies into these treatments are ongoing. Visit ClinicalTrials.gov for information on current trials. The National Tay-Sachs & Allied Diseases Association can provide information on research efforts into Tay-Sachs disease.

Children with Tay-Sachs disease may need lots of different medical equipment. Parents may need to get a pediatric wheelchair, strollers, feeding pump and supplies, adaptive chairs, and bath chairs to name just a few. These devices can be expensive. Parents may need to get foam supports, feeder seats, and specialized strollers. Children who have problems breathing may need oxygen tanks and concentrators. Certain support groups and nonprofits including the National Tay-Sachs & Allied Diseases Association and the Cure & Action for Tay-Sachs (CATS) Foundation provide information on medical equipment. A doctor or other medical specialist can work with families to get or advocate for medical equipment.

The classic, infantile form of Tay-Sachs is a progressive disorder that often cause life-threating complications early in life. Most children pass away by the age of 4 or 5. However, research is ongoing to find treatments and, ultimately, a cure for this disorder. The National Tay-Sachs & Allied Diseases Association has information for parents and families on how to cope with this disorder and what to do when your family receives a diagnosis of Tay-Sachs disease.
The onset of the juvenile form is sometime between the ages of 2-6. The disorder gets worse more slowly than does the infantile form. Most children become unresponsive during their early teen-age years and pass away a few years later.

The late onset form is highly variable. This means that it affects people very differently. Sometimes symptoms begin in the teen-age years, while other times people aren’t diagnosed until well into adulthood. Because of this variability, making statements about prognosis for late onset Tay-Sachs disease is difficult.

Tay-Sachs disease is a rare neurological disorder. Individuals with this disorder cannot break down a normal substance in the body called GM2 ganglioside, a type of fatty material called a lipid. Because they can’t break this substance down, it builds up in cells of the body, particularly nerve cells in the brain and spinal cord. When enough of this fatty material builds up, it destroys the cells and damages the surrounding tissue. The most common form of Tay-Sachs disease is the early infantile form. The first sign is often an exaggerated startle response, which means when an infant is startled the reaction is disproportionate to whatever startled him or her. Infants will eventually lose previously acquired skills like the ability to sit up or hold up their head. As they age, additional symptoms can develop including seizures, vision problems, hearing loss and intellectual disability. Eventually, children will become less aware of their surroundings and voluntary movements will decrease. Death usually occurs around four years of age. Tay-Sachs disease is caused because people have a change or alteration (mutation) in both their HEXA genes. This gene produces an enzyme that is needed to break down GM2 ganglioside. Tay Sachs is inherited in an autosomal recessive manner, which means that a child inherits one altered HEXA gene from each parent.

Cherry red spots are a distinctive finding in infants and children with Tay-Sachs disease. These spots can occur in other disorders, but they are considered a main finding in Tay-Sachs disease. Cherry red spots occur when the cells of the macula of the eye break down. The macula is the yellowish area near the center of the retina. When these cells break down, they expose the choroid that lies underneath. The choroid is the middle layer of the eye. It is made up of connective tissue and many small blood vessels. The exposure of these blood vessels is what gives the eyes of infants and children the distinctive cherry red spot.

Tay-Sachs disease is caused by gene changes in the HEXA gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly.

To find a medical professional nearby who can discuss information about gene changes in the HEXA gene and Tay-Sachs disease, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website

Rare diseases that affect multiple organ systems like Tay-Sachs disease can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual, a multidisciplinary team may require a specialist for neurological disorders who will monitor the function and health of the central nervous system and brain in children (pediatric neurologist); a neurologist for adults with Tay-Sachs disease; a lung doctor (pulmonologist) who can monitor lung function and health and treat breathing problems; an eye specialist (ophthalmologist) who can monitor the function and health of the eyes; a specialist in digestive disorders (gastroenterologist); a psychiatrist; a genetic counselor who can help people understand the disease and the implications for the person and other family members; and a metabolic disease specialist.

Talk to your doctor about the best specialists in your area to follow an individual with Tay-Sachs disease.

Psychiatric symptoms are possible in individuals with late onset Tay-Sachs disease. If someone is exhibiting behavioral problems, signs of depression, or other signs of a mental illness, there are a few different resources that may be helpful for them. For behavioral problems, counseling or behavioral therapy may be useful. For depression or other mental illnesses, counseling by a psychologist or being treated by a psychiatrist may be helpful for them as well.

The National Alliance On Mental Illness and the National Institute on Mental Health (NIMH) provide resources, information and support for people experience mental illness.

When infants and children have a chronic disorder like Tay-Sachs disease, it demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

The different forms of Tay-Sachs disease are:

The most common form of Tay-Sachs disease occurs during the first year of life. Initially, infants age without any noticeable signs and symptoms but they usually become apparent between 3 and 6 months. An early sign is that infants may be easily startled; their reaction may be excessive and disproportionate to what startled them. This is called an exaggerated startle response. Tay-Sachs disease causes progressive neurological problems. They may begin to lose previously acquired skills like holding the head up, sitting up or crawling. Infants may be listless, irritable, and not make eye contact. As they age, infants may develop vision problems, hearing loss, muscle weakness, seizures, and intellectual disability. Infants will become less responsive and voluntary actions will decrease. Eventually, paralysis may occur. The disorder is often fatal by 4 years of age. A distinctive finding of Tay-Sachs disease are cherry red spots, which is when the cells of the macula of the eye break down. The macula is the yellowish area near the center of the retina. When these cells break down, they expose the choroid that lies underneath. The choroid is the middle layer of the eye. It is made up of connective tissue and many small blood vessels.

To find a medical professional nearby who can discuss information about Tay-Sachs disease, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Late onset Tay-Sachs disease is a highly variable disorder. This means that the disorder can affect people very differently. Some people may have symptoms in their teen-age years while others may not develop symptoms until later in adulthood. The symptoms that do occur and their severity can also be very different among people with this disorder.

Symptoms that can potentially affect a person with late onset Tay-Sachs disease include problems with voluntary movements that can lead to clumsiness and an abnormal manner of walking (ataxia) and poor eye-to-hand coordination. Muscle wasting and weakness may be seen. Some adults may eventually have problems walking, running, climbing stairs or with similar activities. In severe instances, people may need assistance to walk and will have to use a cane or potentially a wheelchair. Some people may have brief, spontaneous muscle contractions called fasciculations. Slurred speech is also common. Some people may eventually have problems swallowing. This can make it difficult for people to eat or drink. Some adults may develop psychiatric problems including memory loss, behavioral changes, depression, short attention span, and dementia.

Signs and symptoms of the juvenile form of Tay-Sachs disease often become apparent at some point between 3 and 10 years of age. Ataxia may be the first symptom. Ataxia is a condition where a child has problems with voluntary movements. This leads to abnormal, uncoordinated movements. Children with ataxia may have difficulty walking or an odd manner of walking. They may appear clumsy. As children age, they may have difficulty talking and slowly lose intellectual capabilities. Seizures and spasticity usually develop by the age of 10. Spasticity is a condition where the muscles are stiff, tight and difficult to control. Loss of vision, degeneration of the main nerve of the eye (optic atrophy) and a condition called retinitis pigmentosa can develop. The disorder gets worse more slowly than does the infantile form. Eventually, most children become unresponsive during their early teen-age years and pass away a few years later.

After a diagnosis of Tay-Sachs disease is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in the disorder. Support groups such as the National Tay-Sachs and Allied Diseases Association or the the Center for Jewish Genetics can sometimes provide referrals to physicians or medical centers with experience in treating Tay-Sachs disease.

People diagnosed with Tay-Sachs disease will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

Tay-Sachs disease is not available on newborn screening as of September 2016. However, if there is a family history of Tach-Sachs disease or a doctor has reason to suspect a child may have the disorder, testing can be done on babies at or shortly after birth.

If a baby appears to have health problems that could be caused by Tay-Sachs disease, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor, to find a genetic counselor visit the National Society of Genetic Counselors Find a Genetic Counselor website. Information on how to add a disorder to newborn screening programs can be found at Save Babies Through Screening Foundation.

As of September 2016, there are about 20 studies that are associated with Tay-Sachs disease listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not an exhaustive list of current research. Current studies are looking at a natural history study on the disorder, gene therapy, hematopoietic stem cell transplantation as a potential therapy, and different medications that may be used to treat Tay-Sachs disease.

For the most up-to-date list, contact clinical trials.gov and search for Tay-Sachs disease.

While there is no cure for Tay-Sachs disease, the treatment is supportive and aimed at making sure the child gets enough nutrition and stays hydrated. A feeding tube may help make sure a child gets enough food, water, and nutrition and help prevent food or water from getting in the lungs. It is also important to prevent sickness or infection as much as possible and protect the airway. If seizures develop, medications that prevent seizures, called anticonvulsants, can be given. Research is ongoing to find more effective treatment options and potentially a cure for Tay-Sachs disease.

Tay-Sachs disease is classified as a lysosomal storage disease. Lysosomal storage diseases are those in which there is a buildup of toxic material in lysosomes. Lysosomes are found in almost every type of cell in the body and are the primary digestive unit of a cell. They break down different substances within the cell and recycle them. In these diseases, there is an enzyme deficiency that causes the toxic material to build up in the lysosomes destroying the cells and damaging the surrounding tissues and organs. There are more than 50 different lysosomal storage diseases that have been identified by researchers. For more information on these disorders, visit the Hide & Seek Foundation for Lysosomal Disease Research or the Canadian Society for Mucopolysaccharide and Related Diseases, Inc.

Sandhoff disease is a different disorder from Tay-Sachs disease. People with Tay-Sachs disease do not have enough of the enzyme hexosaminidase A. People with Sandhoff disease do not have enough of the enzymes hexosaminidase A and B. These two disorders are caused by alterations in different genes. Because they partly involve the same enzyme they are sometimes grouped or talked about together.

Children with Tay-Sachs disease may need palliative care. Palliative care ensures that a dying child is as pain free as possible and that all of their physical, social, emotional, and spiritual needs are met. Palliative care requires a close cooperation among family members, immediate relatives, and physicians, and other medical personnel. A primary care physician or local hospital may be able to offer advice and local resources for palliative care.

The International Children’s Palliative Care Network has specific information and support for families considering palliative care for their children. Additionally, the Global Genes Organization has information on rare genetic conditions and palliative care. This information can be found at the Pediatric Palliative Care link.

As children with Tay-Sachs disease grow older, they become less responsive to their surroundings. As they become more disabled and less response, steps must be taken to maintain good bowel health. One concern is the development of severe constipation. Steps can be taken to avoid constipation including giving a child plenty of liquids so that they remain hydrated as well as specific food additives. Medications such as stool softners and laxatives may also be beneficial.

Carriers of an altered HEXA gene that causes Tay-Sachs disease do not develop symptoms of the disorder. They are at risk of passing the disorder on to their children if their partner is also a carrier. A genetic counselor in your area can help you understand more about your risk and the testing options for carriers.

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In Tay-Sachs disease, both parents must pass along a nonworking copy of the HEXA gene. Because of this, Tay-Sachs disease is inherited in what is called an autosomal recessive pattern. People who have one working and one nonworking copy of the HEXA gene are called carriers. When both parents are carriers, for each individual pregnancy, there is a 25% chance that both parents will pass along a nonworking copy of the gene and the child will have the disorder. There is a 50% chance that one parent will pass on the gene change and the other will not, meaning the child will be a carrier for the disorder. Finally, there is a 25% chance that both parents will pass along a working copy of the gene and the child will not have the disorder and will not be a carrier. If you are interested in finding out if you are a carrier for Tay-Sachs disease, talk to your doctor about testing or contact a genetic counselor in your area.

Tay-Sachs disease is inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family. Everyone has two copies of the HEXA gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of the HEXA gene from both parents. The parents have one working copy of the gene and one nonworking copy; they are carriers for Tay-Sachs disease. Carriers do not develop symptoms of the disorder. If two people who are carriers have Tay-Sachs disease, there is a 25% chance with each pregnancy that the child will have the disorder and a 50% chance the child will also be a carrier. If you have a family member with Tay-Sachs disease and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options.

Tay-Sachs disease occurs with greater frequency in people of Eastern European (Ashkenazi) Jewish descent. If both parents have a nonfunctioning copy of HEXA gene, there is a 25% for each pregnancy that a child with have the disorder. Doctors strongly recommend that people of Ashkenazi Jewish heritage undergo carrier screening for Tay-Sachs disease. This involves a simple blood test to detect one of the two alterations in the HEXA gene that cause Tay-Sachs disease in this particular population.

Carrier screening is usually done through a doctor’s office or a hospital-based medical genetics program. The results generally take about 2 weeks. However, advances in technology are making such testing more accessible to families. JScreen is a program managed by the Emory School of Medicine’s Department of Human Genetics, provides at-home genetic screening and private counseling for Jewish people to determine their risk.

Carrier screening is most effective before beginning to start a family. Family planning is an important step for people at risk for having a child with a genetic disorder. A consultation with a genetic counselor is important to learn potential risk to the child and reproductive options for the couple. Support groups like the National Tay-Sachs & Allied Diseases Association (NTSAD) provide information on options for carrier couples. The NTSAD can also help appeal insurance companies that will not cover this test.

Tay-Sachs disease is caused by a change in a gene called HEXA. The HEXA gene produces an enzyme known as beta hexosaminidase A, which is required to break down fatty material called GM2 ganglioside within lysosomes. Lysosomes are the "recycling centers" of the body’s cells. Since these fatty materials can’t be broken down, they build up in the cells. In Tay-Sachs disease, nerve cells in the brain and spinal cord are particularly affected. As more and more fatty material builds up, it interrupts cell function leading to early cell death and organ damage. In the infantile form of Tay-Sachs disease, there is almost no functional beta hemosaminidase A activity. In the late onset, there is only a reduction in the activity of this enzyme.

Some people may get screened for Tay-Sachs disease if they are in a group or population that has an increased risk of having the disorder, such as being of Ashkenazi Jewish descent. Screening may involve a blood test to assess the activity of the enzyme hexosaminidase A. This enzyme is deficient in people with this disorder, and absent or nearly absent in infants with infantile form (the most common form). This enzyme can be measured through a simple blood test. The blood sample must be sent off to a laboratory that specializes in testing for Tay-Sachs disease.

Molecular genetic testing can also be used to screen for Tay-Sachs disease. 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 gene-targeted 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.

In families with no history or known risk of Tay-Sachs disease, the diagnosis is made by a physician. Sometimes a referral to a metabolic or genetic disease specialist is required before a diagnosis is made. A doctor may suspect Tay-Sachs disease because of specific symptoms such as a cherry red spot in the eyes, increased startle response, loss of previous acquired skills, muscle weakness, decreased attentiveness, and other common symptoms. The screening tests described above can be used to confirm a diagnosis of Tay-Sachs disease in affected children.

To find a medical professional nearby who can discuss information and testing, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

To learn about ongoing clinical research into Tay-Sachs disease ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial.

Ongoing studies for Tay-Sachs disease can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. Support groups for Tay-Sachs disease include National Tay-Sachs and Allied Diseases Association, Inc.. There are organizations that provide support and information for all lysosomal storage diseases, mucopolysaccharidosis, or metabolic disease like Children Living with Inherited Metabolic Disease or the Canadian Society for Mucopolysaccharide and Related Diseases. The Center for Jewish Genetics and the Jewish Genetic Disease Consortium may also provide information about research.

The best way to obtain the most accurate, current, clear, and comprehensive information is to be seen at a lysosomal storage disease center (LSDC). LSDCs are genetic centers that specialize in the treatment of patients with lysosomal conditions such as Tay-Sachs disease. At most centers you will see a medical geneticist, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. The LSDC will work with your current doctors to organize the treatment, tests, and specialists you need. There is at least one lysosomal storage disease center in every region. A partial list of treatment centers can be found online at the Emory LSDC’s website. Please feel free to call the Emory Lysosomal Storage Disease Center at 800-200-1524 to locate a center in your state.

While the symptoms of Tay-Sachs disease can vary, most children do not learn to walk or talk. Some children, such as those with the juvenile form of Tay-Sachs disease, may need special accommodations in school. They are eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on Tay-Sachs disease and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans.

Tay-Sachs disease is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the number of new people with a disorder or newly-diagnosed. Tay-Sachs disease occurs more often in certain ethnic groups. The carrier rate in people of Ashkenazi Jewish descent is about 1 in 30. The Ashkenazi are people who are descended from certain Jewish people who lived in Central and Eastern Europe. Other ethnic groups with higher than average carrier rates for Tay-Sachs disease include certain French Canadians near Quebec, Cajuns from Louisiana, and some Old Order Amish people in Pennsylvania.
The overall carrier rate is estimated to be in 1 in 250 people in the general population as a whole. The overall incidence and prevalence rates are not known.

Adults with late onset Tay-Sachs disease can develop swallowing difficulties. This occurs because the muscles and nerves that are used for swallowing become damaged and weakened. Some people may have problems eating or drinking. Food may travel down the wrong tube and end up in the lungs where it causes infection. This is called aspiration pneumonia. Swallowing issues are a significant problem and require medical intervention. The National Tay-Sachs & Allied Diseases Association has information on how to deal with swallowing problems.

Some parents may choose to have their children tested for Tay-Sachs disease before they are born. This is known as prenatal diagnosis. A sample of tissue can be taken from the placenta to test for the activity of hexosaminidase A activity or for changes in the HEXA gene. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied for the activity of hexosaminidase A activity or changes in the HEXA gene. There are risks to the unborn baby of doing these tests before birth. The gene change(s) that causes Tay-Sachs disease must be known in a family to do molecular genetic testing (which can detect these changes). Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis.

Supportive therapies can be used to treat specific symptoms of Tay-Sachs disease. Children may benefit from physical therapy to maintain their muscles and special education classes and speech therapy to help with their language and communication. If the child has seizures, they may be treated with anti-seizure medications. Medications can also be used to treat muscle stiffness. A feeding tube (G-tube) may be needed to help the child get enough food and liquids if they have problems with eating or swallowing.

There are several different names doctors may use for Tay-Sachs disease. However, the most common name for this disorder is Tay-Sachs disease. Other names that may be used to describe this disorder include:

There are several support groups or organizations for Tay-Sachs disease that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. Support groups for Tay-Sachs disease include: the National Tay-Sachs & Allied Diseases Association; the Cure Tay-Sachs Foundation; and the Cure & Action for Tay-Sachs Foundation.

Infants with Tay-Sachs show symptoms within the early stages of life. The first few years of a child’s life are critically important to a child’s development. States have federally-funded early intervention programs that support families that have concerns or issues with their children’s development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) and the National Tay-Sachs & Allied Diseases Association also provide information about early intervention programs and assistance.

Various complimentary treatment options have been explored for children with Tay-Sachs disease. Complementary medicine are treatment methods that can be used along with standard medical practices. Complimentary medicine includes massage therapy, acupuncture and acupressure, music therapy, water (aquatic) therapy, and hippotherapy. Hippotherapy involves using horses to help enhance neurological and physical functioning. Hippotherapy uses the movement of the horse to improve a child’s balance, trunk strength and control and other abilities.