Evaluation

Remain on this page to claim your CME credit. You will not be able to access the EBAC evaluation form if you exit this page.

Before you complete the evaluation form, please let us know how helpful you found the symposium by answering two short questions.

If you're having trouble accessing this quiz, try refreshing your browser. If the issue persists, please enable browser cookies and remove any ad blockers in your settings, and refresh the page again.

Quiz answers

1. TK2d

A. Is a mitochondrial disease due to a deletion of mitochondrial DNA 
B. Is inherited matrilineally and the severity depends on the levels of heteroplasmy
C. Is an autosomal recessive disease due to compound homozygous or heterozygous mutations in the TK2 gene
D. Is a coenzyme Q10 deficiency disease

Correct answer: C. TK2d is an autosomal recessive disease due to compound homozygous or heterozygous mutations in the TK2 gene.

2. The cardinal symptoms of TK2d are

A. Weight loss, respiratory failure, and muscle cramps
B. Optic atrophy and ptosis
C. Hypertrophic cardiomyopathy and muscle weakness
D. Progressive muscle weakness and respiratory failure

Correct answer: D. The cardinal symptoms of TK2d are progressive muscle weakness and respiratory failure.

3. Which of the following statements regarding muscle biopsy in patients with TK2d is correct?

A. Histological results can suggest TK2d and allow extraction of mitochondrial DNA for further analysis
B. A definitive diagnosis can be made on the basis of the biopsy findings alone, without confirming it by genetic testing
C. It is an invasive procedure that adds no useful information
D. In pediatric patients, the biopsy is normal

Correct answer: A. Muscle biopsy in patients with TK2d often reveals dystrophic changes, mitochondrial histochemical defects, and reduced mtDNA content.

4. GDF15 is increasingly used as a biomarker in mitochondrial diseases. Which of the following is accurate?

A. It is a sensitive biomarker for mitochondrial diseases, particularly in cases with prominent muscle involvement
B. It lacks sensitivity for diagnosing mitochondrial diseases, even in cases with muscle involvement
C. Circulating GDF15 levels remain stable regardless of disease severity
D. GDF15 levels are not useful for monitoring treatment responses

Correct answer: A. GDF15 is a reliable biomarker in mitochondrial diseases because it is sensitive for diagnosis, correlates with disease severity, and is useful for monitoring treatment response.

5. Which of the following best reflects the importance of respiratory assessment in patients with TK2d?

A. Respiratory symptoms are rare and typically appear late in the disease course
B. Respiratory involvement is common and may occur early, requiring proactive assessment and intervention
C. Respiratory function is usually preserved in pediatric patients with TK2d
D. Respiratory support is only needed in advanced stages of the disease

Correct answer: B. Respiratory involvement is a frequent and serious complication that can occur early in the TK2d disease course, even before overt symptoms are reported.

6. Which of the following best describes the current status of emerging treatments for TK2d?

A. Deoxynucleoside therapy is globally approved and routinely used in clinical practice
B. Gene therapy trials for TK2d have been halted due to poor outcomes
C. Gene therapy is currently being studied in clinical trials as a potential treatment
D. Combination therapy has been shown to be less effective than single-agent approaches

Correct answer: C. Gene therapy is currently being assessed in clinical trials as a potential treatment for TK2d.