GM1 Gangliosidosis

GM1 Gangliosidosis (also known as Norman-Landing Disease) is caused by a deficiency in acid beta-galactosidase-1 and results in the accumulation of ganglioside in the tissues. As with many Lysosomal Storage Diseases, there are three types of GM1 Gangliosidosis characterized by the age of onset. The infantile form of the disease may be evident at birth or shortly thereafter and presents with organomegaly (enlarged organs, typically the liver and spleen), dysostosis (abnormal bone formation), coarsened facial features and rapid neurologic deterioration. Death typically occurs during the second year of life from recurrent infection or heart failure.
 
The juvenile form of GM1 Gangliosidosis usually presents by two years of age and is characterized by progressive psychomotor retardation and symptoms similar to the infantile form, though less severe. Those afflicted with the juvenile form generally die before the second decade of life. The adult form presents during childhood or adolescence as a slowly progressive dementia with Parkinsonian features. The age of death from the adult form varies greatly from case to case.