What kind of disorder is Tay-Sachs Disease?

Prepare for the Maternal-Fetal Medicine Qualifying Exam. Study with comprehensive flashcards and multiple choice questions, each question is supported with hints and detailed explanations. Equip yourself for success!

Multiple Choice

What kind of disorder is Tay-Sachs Disease?

Explanation:
Tay-Sachs Disease is classified as a neurodegenerative disease. This condition is caused by the deficiency of the enzyme hexosaminidase A, which leads to the accumulation of GM2 gangliosides in the neuronal tissue, particularly affecting the brain and the spinal cord. As these gangliosides accumulate, they disrupt normal neuronal function, leading to progressive neurological deterioration. The hallmark symptoms of Tay-Sachs often manifest in infancy, including developmental delays, motor abnormalities, and cognitive decline. As the disease progresses, affected individuals typically experience severe declines in their neurological function, which ultimately results in premature death. In contrast, hematologic disorders pertain to blood conditions, metabolic syndromes involve a cluster of metabolic abnormalities, and endocrine disorders are related to hormonal imbalances or gland dysfunction. These definitions distinguish Tay-Sachs Disease from the other categories presented. By understanding the nature of neurodegenerative diseases, one can recognize the implications of Tay-Sachs on the nervous system and the importance of early diagnosis and genetic counseling in affected families.

Tay-Sachs Disease is classified as a neurodegenerative disease. This condition is caused by the deficiency of the enzyme hexosaminidase A, which leads to the accumulation of GM2 gangliosides in the neuronal tissue, particularly affecting the brain and the spinal cord. As these gangliosides accumulate, they disrupt normal neuronal function, leading to progressive neurological deterioration.

The hallmark symptoms of Tay-Sachs often manifest in infancy, including developmental delays, motor abnormalities, and cognitive decline. As the disease progresses, affected individuals typically experience severe declines in their neurological function, which ultimately results in premature death.

In contrast, hematologic disorders pertain to blood conditions, metabolic syndromes involve a cluster of metabolic abnormalities, and endocrine disorders are related to hormonal imbalances or gland dysfunction. These definitions distinguish Tay-Sachs Disease from the other categories presented. By understanding the nature of neurodegenerative diseases, one can recognize the implications of Tay-Sachs on the nervous system and the importance of early diagnosis and genetic counseling in affected families.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy