PATHOPHYSIOLOGY OF TAY-SACHS DISEASE!!!!
This is generally the study of how a particular disease came about within the cells of a specific organ in the body due to the improper functioning of a certain structure, located within that specific organ.
WHAT IS TAY- SACHS DISEASE??
Tay- Sachs disease is a condition that affects the brain. Dangerous amounts of a certain type of fatty substance, known as gangliosides, continuously builds up in tissue and nerve cells of the brain. Gangliosides, are created and “suppose” to be broken down at a fast rate at “baby stage” of a human’s life that is when the brain is now starting to develop.
SO WHAT CAUSES IT????
Well, in an area of the brain there is something called enzymes and there is one in particular whose job it is to break down the gangliosides. This enzyme is called, beta- hexosominidase A, if this enzyme is “lazy”, that is it not active enough, then, the result is Tay- Sachs disease.
HOW DO YOU KNOW IF SOMEONE HAS TAY-SACHS DISEASE??????????
Babies who are born with this disease, they seem to be growing and developing as any other normal baby for the first few months, “the super cute, adorable stage”. Then……….. the nerve cells become occupied by this fatty material, which results in the weakening of the mental abilities, which, in turn affects the physical. The child may become deaf, blind or may not be able to swallow, the muscles can degenerate, bringing with it paralysis.
Not only the innocent, adorable babies are affected by this Tay- Sachs Devil, sorry I mean Disease. There is also a rare form of it that occurs in patients in their prime of adulthood, twenties to early thirties. It can be determined by an unsteady posture and progressive neurological depletion.
This disease is higher among the Eastern European people and Askhenazi Jews descendants.
HOW THEN DO WE DIAGNOSE TAY- SACHS DISEASE??
THE!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!! A blood test, obviously. This blood tells measures beta- hexosaminidaseA activity. Wait!!!!!!!!!!!!!!! We do not need to panic and run to the doctor if we suspect that we or someone we know has the disease. To have Tay- Sachs disease, both your parents must carry the mutated gene in order to bring forth an affected child.
YES!!! THERE ARE OTHER SYMPTOMS:
- An increased startle reflex to noise
- “Cherry red” spots in the eyes.
- Paralysis or loss of motor function
- Slow growth or development
WHAT IS THE TREATMENT FOR TAY-SACHS DISEASE????
At present, there is no known cure for the disease, probably because I am still at the University level but I’ll get to that when I’m done. Only ways and means, to help people accept and live comfortable- “ish” lives with the disease. The treatment involves: preventing breathing problems, relieving a term known as dysphagia: which is feeding or swallowing difficulties and therapy for patients who suffered loss of motor skills or paralysis.
References for pictures