tay sachsdisease 140122023821 phpapp02
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Tay-Sach’s DiseaseTay-Sach’s DiseaseA genetic metabolic disord
er 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 SymptomsFor Infantile
TSDBlind 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
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