10 Questions
Which staining method is positive for succinate dehydrogenase (SDH) in these fibers?
Cytochrome oxidase (COX)
What do the foci of scattered cytochrome-c- oxidase–negative fibers correspond to?
Accumulation of mitochondria
What type of analysis is needed for genetic counseling in mitochondrial diseases?
Genetic analysis
How are mitochondrial DNA length mutations (common deletion) best detected?
Southern blot analysis
What can be the result of genetic analysis in some patients with high clinical suspicion?
Negative for all mutations
Which of the following is NOT a common cardiac feature of mitochondrial disorders?
Retinal pigmentary abnormalities
Which of the following laboratory studies is NOT typically performed for diagnosing mitochondrial disorders?
Serum CPK
What is the significance of an elevated lactate to pyruvate ratio in diagnosing mitochondrial disorders?
It suggests a defect of OXPHOS.
Which of the following is a common feature of mitochondrial dysfunction seen in muscle biopsy?
Ragged Red Fiber (RRF)
What is the importance of a detailed family history in diagnosing mitochondrial diseases?
It helps in detecting a maternal line of inheritance.
Test your knowledge on the methods of diagnosing mitochondrial diseases. Learn about the importance of clinical history, examination, and complex laboratory tests in making an accurate diagnosis.
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