Living with Sandhoff disease
A rare inherited condition that slowly damages nerve cells in the brain and spinal cord, with infantile, juvenile, and adult forms.
Understanding Sandhoff disease
There are three types, named by age at onset: infantile, juvenile, and adult. In the infantile form, babies seem healthy until 3 to 6 months, then development slows, muscles weaken, and skills are lost. Seizures, vision and hearing loss, and intellectual disability follow. The juvenile and adult forms are very rare and tend to be milder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of movement skills
- Muscle weakness
- Seizures
- Vision and hearing loss
- Cherry-red spot in the eye
- Enlarged liver and spleen
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 HEXB 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 Epilepsy 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
It is caused by changes in the HEXB gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: beta-hexosaminidase-beta-subunit deficiency; gm>2< gangliosidosis, type 2; gm2 gangliosidosis 0 variant; gm2 gangliosidosis, 0 variant; gm2 gangliosidosis, type 2; gm2-gangliosidosis, type ii
Patient organizations
- 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 Sandhoff disease.
Explore research for Sandhoff disease
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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