Which of the following describes symptoms of Sengers Syndrome?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

Sengers Syndrome is a rare genetic disorder characterized by a combination of specific symptoms, most notably muscle weakness and ataxia. This condition results from mutations in the ETFDH gene and often presents with features such as cardiomyopathy (a disease of the heart muscle) and myopathy (muscle disease), leading to muscle weakness. The ataxia is due to the involvement of the nervous system, specifically affecting coordination and balance. Therefore, the presence of muscle weakness and ataxia is fundamental to the clinical presentation of Sengers Syndrome, making it the correct choice in this context.

The other options, while they describe various medical symptoms, do not correspond to the established clinical manifestations of Sengers Syndrome. For example, severe headaches and loss of vision may relate to other neurological or systemic conditions but are not associated with Sengers. Similarly, paralysis of the lower limbs and seizures with hyperactivity do not align with the hallmark features of Sengers Syndrome, which focus on muscle weakness and ataxia as a direct outcome of the disease's underlying pathology.

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