At what age does GM1 gangliosidosis typically present?

GM1 gangliosidosis is a lysosomal storage disorder caused by a deficiency of the enzyme β-galactosidase, which leads to the accumulation of GM1 ganglioside in various tissues. The condition is characterized by a spectrum of clinical manifestations, and the most common and severe form presents during infancy.

Infants affected by GM1 gangliosidosis typically display symptoms such as progressive developmental regression, muscle weakness, hypotonia, and cognitive deterioration. They may also exhibit hepatosplenomegaly and cherry-red spots in the retina. These early signs and the rapid progression of the disease highlight the typical age of presentation in infancy, making it crucial for early recognition and management strategies.

In contrast to the early onset seen in infancy, the other options—adulthood, childhood, and late adulthood—do not align with the clinical characteristics of GM1 gangliosidosis, as these do not exhibit the hallmark features of this disorder nor the typical timeline of symptom development. This reinforces why infancy is established as the primary period for the presentation of GM1 gangliosidosis.