Which disease is indicated by muscle weakness, blindness, and a cherry-red spot on the macula?

The disease characterized by muscle weakness, blindness, and a cherry-red spot on the macula is Tay-Sachs Disease. Tay-Sachs is a genetic disorder caused by a deficiency of the enzyme hexosaminidase A, leading to the accumulation of GM2 gangliosides in neurons. This accumulation particularly affects the nerve cells and leads to the progressive neurological decline associated with the disease.

One of the hallmark clinical features of Tay-Sachs is the presence of a cherry-red spot on the macula, which is observed during fundoscopic examination. This spot occurs due to the loss of ganglion cells in the retina as the disease progresses, creating a clear area against the remaining retinal pigment. Additionally, patients typically present with muscle weakness, developmental delay, and loss of motor skills, with sight loss due to retinal degeneration.

The combination of these symptoms — muscle weakness, visual impairment, and the cherry-red spot — aligns closely with Tay-Sachs Disease, making it a classic presentation in pediatric neurology.