Living with Tay-Sachs disease, variant AB
A rare inherited condition (GM2 activator deficiency) that causes progressive brain injury, most often in infants.
Understanding Tay-Sachs disease, variant AB
Most people have the acute infantile form. Signs appear between 4 and 12 months, when development slows and movement muscles weaken. Infants lose skills such as turning over, sitting, and crawling, and have an exaggerated startle reaction to loud noises. Seizures, vision loss, and intellectual disability follow. A cherry-red spot in the eye is typical. Some people have milder, variable signs later in life.
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 stiffness and low trunk muscle tone
- Seizures and vision loss
- Loss of speech
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in GM2A 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
United Leukodystrophy Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: United Leukodystrophy Foundation, Epilepsy Foundation
- 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 United Leukodystrophy Foundation 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 GM2A gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ab variant; gm>2< gangliosidosis, type ab; gm2 activator deficiency; gm2 gangliosidosis, ab variant; gm2-gangliosidosis, ab variant; hexosaminidase activator deficiency
Patient organizations
- United Leukodystrophy FoundationTay-Sachs disease, variant AB · United States
- National Tay-Sachs and Allied Diseases AssociationTay-Sachs disease, variant AB · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Tay-Sachs disease, variant AB.
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