What does tay sachs look like

Show references National Library of Medicine. Tay-Sachs disease. Genetics Home Reference. Accessed Aug. Learning about Tay-Sachs disease.

National Human Genome Research Institute. Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke. Tay-Sachs disease is a condition that runs in families.

A child gets it by inheriting the gene for it from both parents. The parents are carriers of the gene. This means that they each have one of the genes for Tay-Sachs disease. Carriers of Tay-Sachs disease do not show any symptoms of it.

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. If your child has a seizure or has trouble breathing, go to the emergency room or call immediately. People with the juvenile form typically display symptoms between the ages of 2 and 5 and may live to age Symptoms may include muscle weakness, seizures, and recurring respiratory infections.

Adult Tay-Sachs, sometimes known as chronic or late onset Tay-Sachs, is the mildest form. Symptoms appear during adolescence or adulthood. People with the adult form of Tay-Sachs disease usually have these symptoms:.

A defective gene on chromosome 15 causes Tay-Sachs disease. Without this protein, a molecule called GM2 ganglioside builds up in nerve cells in the brain, destroying these cells. You have to receive two copies of the defective gene — one from each parent — to inherit the disease.

If only one parent passes down the defective gene, the child becomes a carrier. The disease is most common among Ashkenazi Jews, whose families descend from Jewish communities in Central or Eastern Europe.

If you or your spouse is a carrier, genetic testing can help you decide whether or not to have children. Prenatal tests , such as chorionic villus sampling CVS and amniocentesis, can diagnose Tay-Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease.

CVS is performed between 10 and 13 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Treatment. Currently, there is no cure for Tay-Sachs disease, and there is no treatment that stops or slows the progression of the disease.

Treatment aims to relieve some of the symptoms, manage infections, prevent complications, and increase quality of life as much as possible. Treatment for symptoms may include anticonvulsants to control seizures in children, and antipsychotic medications for psychiatric disorders in adults.

Of note, tricyclic antidepressants are thought to be ineffective, and they may actually inhibit the little enzyme activity that may be present in some people with the disease. Preventing complications involves getting adequate nutrition and hydration, preventing airway obstruction, and avoiding severe constipation with food additives, stool softeners, or laxatives. Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.

You can also learn more about genetic consultations from MedlinePlus Genetics. Research Research. Clinical Research Resources ClinicalTrials.

Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Patient Registry The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations. Organizations Supporting this Disease. Do you know of an organization? Living With Living With. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More. Where to Start MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. This website is maintained by the National Library of Medicine. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease. Click on the link to view information on this topic.

NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health.

Visit the website to explore the biology of this condition. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. Orphanet is a European reference portal for information on rare diseases and orphan drugs.

Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Tay-Sachs disease. Click on the link to view a sample search on this topic. Submit a new question On what chromosome is the gene that causes Tay-Sachs disease?

See answer I have a friend whose 8 month-old baby was recently diagnosed with Tay-Sach disease. See answer Have a question? References References. Tay-Sachs Disease. Baumann N, Turpin J. Tay-Sachs disease.