Which disease presents with an acoustic startle response within the first few months of life?

The presence of an acoustic startle response within the first few months of life is most closely associated with Tay Sachs disease. Tay Sachs is a genetic disorder caused by the absence of hexosaminidase A, an enzyme involved in the breakdown of certain fats in the body. This deficiency leads to a toxic buildup of GM2 gangliosides, particularly in the brain and nervous system.

Infants with Tay Sachs typically appear normal at birth, but as they progress, developmental delays and neurological symptoms begin to manifest. The acoustic startle response is a reflexive reaction to loud noises that is often observed in infants, and its presence in this context may indicate abnormal neurological development due to the effects of the disease on the central nervous system.

In contrast, benign Rolandic epilepsy generally appears later in childhood and is characterized by seizures that typically occur during sleep, not during the early months of life. Huntington's disease, a neurodegenerative disorder, typically presents much later in life, often in middle adulthood. West Syndrome, a form of epilepsy that manifests with infantile spasms, occurs within the first year but does not specifically include the acoustic startle response as a defining feature.

Understanding Tay Sachs disease and its early symptoms helps clarify how this condition aligns with the