What was the Tay-Sachs Disease or GM2 Gangliosidosis market share?

 

It is All About Tay-Sachs Disease or GM2 Gangliosidosis 

GM2 Gangliosidosis is an autosomal recessive metabolic disorder due to β-hexosaminidase deficiency. It is a group of lysosomal lipid storage disorders and is caused by mutations in at least 1 of 3 recessive genes: HEXA (Tays–Sachs disease, where only the isoform A is deficient), HEXB (Sandhoff disease, where both isoforms are involved), and GM2A (an activator required for both isoforms activity). 

Normal products of all 3 genes are required for normal catabolism of the GM2 ganglioside substrate. Deficient activity of these enzymes leads to accumulation of the substrate inside neuronal lysosomes, leading to cell death. These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB.

GM2 gangliosidosis is divided into three clinical subtypes according to the age at onset. In general, the later the disease occurs, the more slowly it progresses. Type 1 (infantile type) begins in the first year of life with rapidly progressive diffuse neurological deterioration and death before 4 years of age. 

Type 2 (juvenile type with onset between 2 and 10 years) and type 3 (adult type with onset after age 10 years) are more slowly progressive neurological disorders in which the clinical manifestations depend on which parts of the central nervous system are affected. Although rarely prominent, movement disorders can occur in these later-onset forms.

The classic infantile forms of Tay-Sachs and Sandhoff disease are characterized by early neurologic deterioration, loss of developmental milestones, exaggerated startle response to auditory stimuli, motor weakness, progressive blindness, cherry-red spots in the macular region, seizures, and early death.

Juvenile GM2 gangliosidosis (deficiency of hexosaminidase A) has an age of onset of 2-6 years and is characterized by combinations of psychomotor deterioration, progressive ataxia, dysarthria, spasticity, dystonic movements, athetoid posturing of the hands and extremities, and seizures, with death by the midteens.

Adult or chronic GM2 gangliosidosis has a slowly progressive course with neurologic symptoms including cerebellar ataxia, dysarthria, weakness, and atrophy (similar to a motor neuron disease), a combined spinocerebellar ataxia, oculomotor disturbances, and involvement of the peripheral and autonomic nervous system.

Source:- What is Tay-Sachs Disease or GM2 Gangliosidosis