Patients with pathogenic variant in the GM2A gene present with the following clinical features:
Eyes
• Cherry red macular spot
• Roving eye movements
• Decreased visual fixation
• No eye contact
Developmental delay and neurological involvement
• Loss of head control
• Ataxia
• Nystagmus
• Seizures
• Hyperacusis
• Loss of speech
• Hypotonia
• Hyperreflexia
• Spastic quadriparesis
• Pyramidal tract signs
• Dystonia
• Chorea
• Primitive reflexes
• Decreased attentiveness
Brain MRI findings
• Cerebral and cerebellar white matter changes
• Diffuse brain atrophy
• Delayed myelination
• Periventricular dysmyelination
Other findings
• Abnormal behavior
• Increased anxiety
• Phobias