Tay sachs disease

Tay-Sachs is a rare disease of the central nervous system that most commonly affects infants. In infants and young children, it’s a progressive disease that is always fatal. Tay-Sachs can also occur in teens and adults, causing less severe symptoms. It’s caused by problems with an enzyme known as hexosaminidase A (Hex-A) that’s important for your brain. People with Tay-Sachs don’t have enough of this enzyme. As a result, a fatty substance (lipid) builds up and causes damage to the brain and spinal cord. Tay-Sachs is inherited, meaning it is passed down through families. There’s no known cure, but testing can tell you whether you’re at risk for passing Tay-Sachs to your children. Infantile Tay-Sachs is the most common form. There are also juvenile and adult forms of the disease, which occur less frequently. The age of onset Symptoms of infantile Tay-Sachs Most infants with Tay-Sachs disease appear healthy at birth and for the first few months of life, with symptoms usually appearing from age 3 to 6 months. Progression is rapid, and a child with infantile Tay-Sachs may live to age 4 or 5. Symptoms of infantile Tay-Sachs include: • muscle weakness • • increased startle response • declining motor skills • slow growth • • • • • • • red spot on the macula (an oval-shaped area near the center of the retina in the eye) Emergency symptoms If your child has a seizure or has trouble breathing, go to the emergency room or call your local emergency services immediately. Symptoms of juv...

Number 691 (Replaces Committee Opinion Number 318, October 2005; Committee Opinion Number 432, May 2009; Committee Opinion Number 442, October 2009; Committee Opinion Number 469, October 2010; Committee Opinion Number 486, April 2011. Reaffirmed 2023) Committee on Genetics This Committee Opinion was developed by the American College of Obstetricians and Gynecologists’ Committee on Genetics in collaboration with committee members Britton Rink, MD; Stephanie Romero, MD; Joseph R. Biggio Jr, MD; Devereux N. Saller Jr, MD; and Rose Giardine, MS. This document reflects emerging clinical and scientific advances as of the date issued and is subject to change. The information should not be construed as dictating an exclusive course of treatment or procedure to be followed. ABSTRACT: Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options. A patient may decline any or all screening. When an individual is found to be a carrier for a genetic condition, his or her relatives are at risk of carrying the same mutation. The patient...

• • Where to start • Rare Disease Facts and Statistics • NORD’s Rare Disease Database • Rare Disease Video Library • What It Means To Be Undiagnosed • Find A Rare Disease Organization • • Stay informed • Stories That Inspire • A Podcast For The Rare Disease Community • Rare Disease Day • Resource Library • Publications On Rare Disease • • • Where to start • Rare Diseases Defined • Financial & Medical Assistance • Call Center & Information Services • Bringing Together Your Community • • Mentoring organizations • NORD Member List • Start a Rare Disease Organization • Membership Program • Becoming Research Ready • Patient-Focused Drug Development • • Improving clinical care • Rare Disease Centers of Excellence • Continuing Medical Education (CME) • • Partnering with the community • Corporate Council • National Partnerships • Global Partnerships • Diversity, Equity & Inclusion • • Community Support • Together We Are Strong. • Learn More • Advancing Research • • For patients • List of Rare Diseases • Gene Therapy for Rare Disease • Find Clinical Trials & Research Studies • • For researchers • Request for Proposals • Research Grant Programs • Data Standards for Rare Diseases • • For clinicians • Resources for Patients • Find a Rare Disease Care Center • Continuing Medical Education (CME) • • Connect • IAMRARE ® Program Powered by NORD • Rare Disease Cures Accelerator (RDCA-DAP) • Add Your Expertise • • Featured publication • Accelerator Pathway report • View More • Driving Polic...