GM2 GANGLIOSIDOSIS QUANTITATIVE, BLOOD; TAY SACHS & SANDHOFF DISEASE

TAY SACHS AND SANDHOFF DISEASE ARE GM2 GANGLIOSIDOSIS WHICH ARE AUTOSOMAL RECESSIVE DISORDERS. TAY SACHS DISEASE IS CAUSED DUE TO DEFICIENCY OF ENZYME HEXOSAMINIDASE A WHEREAS SANDHOFF DISEASE IS DUE TO DEFICIENCY OF ENZYME HEXOSAMINIDASE A & B. TAY SACHS DISEASE HAS 3 FORMS - INFANTILE FORM IS A FATAL NEURODEGENERATIVE DISEASE WITH MACROCEPHALY, LOSS OF MOTOR SKILLS, INCREASED STARTLE REACTION & MACULAR CHERRY RED SPOT. JUVENILE-ONSET FORM PRESENTS WITH ATAXIA & DEMENTIA WITH DEATH BY 10-15 YEARS. ADULT-ONSET FORM STARTS WITH CLUMSINESS IN CHILDHOOD; PROGRESSIVE MOTOR WEAKNESS IN ADOLESCENCE & SPINOCEREBELLAR SIGNS & DYSARTHRIA IN ADULTHOOD.