tay-sach’s disease

Tay-Sach’s DiseaseTay-Sach’s Disease

A genetic metabolic disorder caused by deficiency of the enzyme hexosaminidase A (hex-A) that results in a failure to process a lipid called GM2 ganglioside that accumulates in the brain and other tissues. 

rare autosomal recessive genetic disorder.

History:History:

Waren Tay and Bernard Sachs, two physicians, described the disease's progression and provided differential diagnostic criteria to distinguish it from other neurological disorders with similar symptoms.

Types of Tay-SachsTypes of Tay-SachsInfantile TSDJuvenile TSDAdult/late onset TSD

Cause: Cause:

When a person is born with a mutation on Hex A gene.

With or without reduces levels of beta-hexosaminidase enzyme

Effects:Effects: it causes a progressive

deterioration of nerve cells and of mental and physical

the disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells.

Inheritance: Inheritance: This condition is inherited in an

autosomal recessive pattern.The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene.

Signs and SymptomsSigns and Symptoms

For Infantile TSD

Blind DeafUnable to

swallowParalytic

Juvenile TSD cognitive

and motor skill deterioration

 dysarthria dysphagia ataxiaspasticity

Diagnosis:Diagnosis:

Simple blood testDNA testRed dot found on the

retina

No cure for the Tay-sach Disease. However there are ways of making their lives comfortable.

Massage therapyFeeding tubesWheel chairs, canes, and walkers

Prevention:Prevention:Prenatal diagnosisPreimplantation genetic

diagnosisMate selection