Question

(3) a brief explanation of the symptoms associated with the disease selected and its impact on the function of myelin sheath

Tay-Sachs disease

Answer 1

Ans.Symptoms associated with Tay- Sachs disease:

1) Chronic form of Tay-sachs disease:develope symptoms at the age of 10,but it progresses slowely.It is recognised by slurry speech,muscle cramps,and tremors.

2).Progression is rapid thats the reason why a child will typically pass away by 4- 5 years old.

3).Red spot on macula.: An oval shaped area developes near the centre of ratina in the eye.which is also called "cherry - red spot" in the eye.

4).Spasticity:decreased muscle strength,paralysis,and muscular stiffness.

5) Exaggerated reaction: this is also a symptom of Tay sachs disese in which the effected baby shows exaggerated reactions when hears loud noises.

6)Seizures: it is a sudden uncontrolled,electrical disturbance in the brain.if the effected individual have two or more seizures or a tendency to have recurrent seizures,they will have epilepsy.

7).Difficulty in development of speech and motor skills: affecteaffected childrens commonly strugle for learing to move and walk due to problems of balance.they may also have trouble swallowing and learning to talk .

8).Dermentia:most childrens suffers from fits when the disease have progressed.

9).Head size will start to grow around 18 months of age.

10).increased startle response.

11).suspectible to infections.

12).Dintrested in environment.

13).cramps and twitching.

Impacts on functions of Myelin sheath: This disease is due to absence of a protein called Hexoaminidase A,by which the chemicals called gangliosides start to build up in the nerve cells of brain .that proves neurodegeneration of the myelin sheath.m yelin sheath is a llipid rich layer surronding the neurons.tay sachs disease leads to demyelination that is the loss of myelin sheath and is hallmark of neurodegenration.