Sandhoff disease

A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.

What is Sandhoff disease?

Sandhoff disease is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have Sandhoff disease, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with Sandhoff disease

Bilateral tonic-clonic seizureBlindnessChronic diarrheaEpisodic abdominal painMuscle weaknessMyoclonic seizureUrinary incontinence

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.