TAY SACH’S DISEASE (TSD)BY

Dr.K. ANANTHA MURUGANINTERNATIONAL SCHOOL OF MEDICINE

TSDIt is an rare inherited genetic autosomal and

recessive disorder that progressively destroys nerve cells(neurons) in the brain and spinal cord causes severe collateral effects , both physical & mental

TSDWarren tay –British ophthalmologist -1881

first described the red spot on the retina of eye, which is present in tay sach’s disease

Bernard sach –American neurologist-1887, who described the cellular changes of tay sach’s disease

Warren tay & Bernard sach

TSDIi is an lysosomal storage disorder due to

genetic mutations in the HEX A geneA disease where your lysosomes are not

working right due to the absence of the enzyme hexosaminidase-a [Hex A]

Hexosaminidase is needed for the body to breakdown fatty waste cells found in the brain cells

Signs & symptomsCherry red spot in the retina of eyeDeafnessDecreased eye contact-blindnessDecreased muscle tone – paralysisDelayed mental & social skillsSlow growthDementiaseizures

Types of TSDInfantile TSDJuvenile TSDAdult / late onset TSD

TREATMENT / CURE