Gangliosidosis GM2 Type II (Sandhoff Disease)

What is Gangliosidosis GM2 Type II (Sandhoff Disease)?

Gangliosidosis GM2 type II (Sandhoff’s Disease) is a hereditary disease from the group of gangliosidosis.

Causes of Gangliosidosis GM2 Type II (Sandhoff Disease)

Sandhoff’s disease (GM2-gangliosidosis, type II, option 0) develops as a result of partial deficiency of hexosaminidase A.

Pathogenesis during gangliosidosis GM2 Type II (Sandhoff Disease)

Characteristic is the swelling of neurons with concentric layers of cytoplasmic inclusions, but with type II there is a higher concentration of aspaloganglioside GM2 in the nervous tissue, as well as glycosphingolipid in the mesenchymal tissues of internal organs, which is manifested by insignificant hepatomegaly.

Symptoms of Gangliosidosis GM2 Type II (Sandhoff Disease)

Begins at the age of 2-6 years with ataxia. Tetraparesis, mental deterioration, atrophy of the optic nerves, the symptom of “cherry bone” and retinal pigment degeneration appear gradually. In GM2-gangliosidosis (variant AB), the activity of galactosaminidases A and B is normal, but there is an accumulation of GM2 ganglioside in the brain. This form is A. and. begins at the age of about 1 year with the appearance of muscle hypotension, seizures. Decerebration rigidity gradually develops, a “cherry bone” symptom appears in the fundus. Death occurs at the age of 3 years.