Canadian Health Information Management Association Practice Exam

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Which inherited disease is characterized by symptoms such as rapid aging, wrinkling of skin, muscular atrophy, and baldness?

Leukemia.
Progeria.
Tay-Sachs.
Werner syndrome.

The correct answer is: Werner syndrome.

The inherited disease characterized by symptoms such as rapid aging, wrinkling of the skin, muscular atrophy, and baldness is actually Werner syndrome. This condition is a genetic disorder that leads to premature aging and is associated with features such as graying hair, hoarseness, and the development of age-related diseases at a much younger age than typically expected. It results from mutations in the WRN gene, which is involved in DNA repair and maintenance, indicating its crucial role in cellular health and longevity. In contrast to other choices, such as leukemia, which is a type of cancer affecting blood cells; Progeria, which is a different form of premature aging primarily affecting children and is caused by a mutation in the LMNA gene; and Tay-Sachs, which is a neurodegenerative disorder affecting infants and characterized by a specific enzyme deficiency. These conditions do not share the same combination of symptoms or the genetic mechanisms seen in Werner syndrome, thereby leading to a unique presentation of accelerated aging.