GM2A

Clinical Characteristics

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