What is a common symptom observed in Sandhoff Disease?

Sandhoff Disease is a type of GM2 gangliosidosis caused by a deficiency in hexosaminidase A and B, leading to the accumulation of GM2 gangliosides in the body. A hallmark symptom of Sandhoff Disease is neurological decline, which can present with various symptoms such as developmental delay, loss of motor skills, and other neurological manifestations. Commonly observed in these patients are changes like cherry-red spots in the retina and skeletal abnormalities.

Skeletal abnormalities can occur due to the involvement of the nervous system and muscular degeneration that may affect posture and bone development. Therefore, skeletal abnormalities may be seen as a secondary effect of the disease's impact on overall development and neuromuscular function. This aligns with the understanding of the various systemic effects of the disease.

In contrast, other symptoms listed, such as corneal clouding, marfanoid habitus, and sweet odor in urine, are more characteristic of different metabolic diseases and conditions. Corneal clouding is generally associated with lysosomal storage disorders like mucopolysaccharidoses, while marfanoid habitus pertains to connective tissue disorders such as Marfan syndrome. A sweet odor in urine is indicative of maple syrup urine disease or other aminoacidopathies, not Sandhoff