What are some common symptoms of Tay-Sachs disease?

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Tay-Sachs disease is a progressive neurodegenerative disorder that primarily impacts infants and is caused by a deficiency in the enzyme hexosaminidase A. This deficiency leads to an accumulation of a fatty substance called GM2 ganglioside in the nerve cells, particularly in the brain. The symptoms associated with this condition typically manifest in early infancy and include seizures, which result from the abnormal electrical activity in the brain. Muscle weakness is another prominent symptom, as the disease affects the nervous system's ability to properly regulate muscle function. Hearing loss is also common due to the nervous system's impact on auditory pathways.

In contrast, the other options represent symptoms that are not associated with Tay-Sachs disease. Increased appetite and weight gain do not align with the progressive deterioration seen in this condition. Severe fatigue and hair loss, while serious in other contexts, are not typical symptoms of Tay-Sachs. Frequent infections and high fever are more indicative of immune system dysfunction or other types of illnesses rather than a genetic disorder like Tay-Sachs. This distinct set of symptoms—seizures, muscle weakness, and hearing loss—specifically highlights the neurological impact of this disease, making them characteristic of Tay-Sachs.

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