Tay-Sachs disease (TSD) is a rare genetic disease that stops the nerves from working the right way. It mostly affects babies and young children. It can be mild or severe. TSD can cause early death in children. It is more rare for an adult to get TSD, and it is also often less severe.
TSD is caused by a gene issue that is passed down from both parents. The gene issue results in a missing enzyme. This enzyme is needed to break down a fatty substance. When this substance builds up in the brain it causes damage.
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The most common risk factor is having two parents who carry the gene issue.
TSD is also more common in:
- People of Eastern European (Ashkenazi) Jewish descent
- French Canadians in eastern Quebec and New England
- Cajun people in Louisiana
- Non-Amish - Pennsylvania Dutch
Problems start when a baby is about 4 to 5 months of age. TSD gets worse over time. Common problems are:
- Delay or loss of skills such as crawling
- Learning problems
- Problems speaking
- Muscle stiffness, spasms, or weakness
- Problems swallowing
- Vision or hearing problems
- Being easily startled by noise or motion
You will be asked about your child's symptoms and health history. A physical exam will be done.
Blood tests will be done to check for a missing enzyme The blood test confirms the diagnosis.
TSD cannot be cured. The goal of treatment is to manage symptoms. Options are:
- Therapy for feeding, swallowing or speech problems
- Physical therapy
- Medicines such as:
- Antidepressants for mental health problems
- Antiseizure medicine
There are no known guidelines to prevent TSD.
- Lefter, S., O'Mahony, O., et al. Late-onset Tay-Sachs disease in an Irish family. Movement Disorders Clinical Practice, 2021; 8(1): 106-110.
- Tay-Sachs disease. Cleveland Clinic website. Available at: https://my.clevelandclinic.org/health/diseases/14348-tay-sachs-disease.
- Tay-Sachs disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/tay-sachs-disease.
- Tay-Sachs disease. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/health-information/disorders/tay-sachs-disease.
- Chelsea Skucek, MSN, BS, RNC-NIC
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