GM1 gangliosidosis type 3

A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.

Signs and symptoms

• Scoliosis
• Delayed speech and language development
• Kyphosis
• Decreased beta-galactosidase activity
• Platyspondyly
• Ventriculomegaly
• Dysarthria
• Opacification of the corneal stroma
• Foam cells
• Mild intellectual disability

Also known as: adult-onset GM1 gangliosidosis