Living with Tay-Sachs disease
An inherited nervous system condition in which nerve cells in the brain and spinal cord are lost, affecting movement and development.
Understanding Tay-Sachs disease
The most common form is infantile Tay-Sachs. Babies usually develop typically until 3 to 6 months, then lose skills such as turning over, sitting, and crawling. They have an exaggerated startle reaction to loud noises. Later features include seizures, trouble swallowing, vision and hearing loss, and intellectual disability. A cherry-red spot in the eye is typical. Juvenile and late-onset forms are rare and milder, with muscle weakness, poor coordination, speech problems, and psychiatric symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of developmental skills
- Cherry-red spot in the eye
- Exaggerated startle to loud noises
- Muscle weakness and twitches
- Poor coordination and frequent falls
- Seizures and trouble swallowing
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in HEXA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Tay-Sachs and Allied Diseases Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HEXA gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: disease, tay-sachs; gm2 gangliosidosis, b, b1 variant; gm2 gangliosidosis, type 1; gm2-gangliosidosis, several forms; hex a pseudodeficiency; hexa deficiency
Patient organizations
- National Tay-Sachs and Allied Diseases AssociationTay-Sachs disease · United States
- Epilepsy FoundationEpilepsy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Tay-Sachs disease.
Explore research for Tay-Sachs disease
Explore actively recruiting Tay-Sachs disease studies with HealthSpark.
Find actively recruiting studies for Tay-Sachs disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Tay-Sachs disease studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Tay-Sachs disease
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Tay-Sachs disease experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.