Overview
Definition
An autosomal recessive lysosomal storage disease causing progressive destruction of nerve cells in the brain and spinal cord due to hexosaminidase A deficiency.
Epidemiology
Rare in general population. High incidence in Ashkenazi Jewish heritage.
Etiology & Risk Factors
- HEXA gene mutation
- Lysosomal GM2 ganglioside accumulation
Clinical Symptoms
- Loss of motor skills
- Exaggerated startle response
- Cherry-red spot on macula
- Muscle weakness
- Seizures
Clinical Approach
Diagnosis
- Decreased serum hexosaminidase A activity
- Genetic testing showing HEXA mutations
Management
- Supportive and palliative care
- Respiratory hygiene and seizure control
Complications
- Blindness
- Dementia
- Paralysis
- Inability to swallow