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Diagnosing Mitochondrial Diseases

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Questions and Answers

Which staining method is positive for succinate dehydrogenase (SDH) in these fibers?

Cytochrome oxidase (COX) (correct)

Masson's trichrome

Hematoxylin and eosin (H&E)

Periodic acid-Schiff (PAS)

What do the foci of scattered cytochrome-c- oxidase–negative fibers correspond to?

Accumulation of mitochondria (correct)

Ragged blue fibers

Defective mitochondria

Impaired mitochondrial protein synthesis

What type of analysis is needed for genetic counseling in mitochondrial diseases?

Genetic analysis (correct)

Cytochrome oxidase (COX) staining

Muscle biopsy

Succinate dehydrogenase (SDH) staining

How are mitochondrial DNA length mutations (common deletion) best detected?

Southern blot analysis Signup and view all the answers

What can be the result of genetic analysis in some patients with high clinical suspicion?

Negative for all mutations Signup and view all the answers

Which of the following is NOT a common cardiac feature of mitochondrial disorders?

Retinal pigmentary abnormalities Signup and view all the answers

Which of the following laboratory studies is NOT typically performed for diagnosing mitochondrial disorders?

Serum CPK Signup and view all the answers

What is the significance of an elevated lactate to pyruvate ratio in diagnosing mitochondrial disorders?

It suggests a defect of OXPHOS. Signup and view all the answers

Which of the following is a common feature of mitochondrial dysfunction seen in muscle biopsy?

Ragged Red Fiber (RRF) Signup and view all the answers

What is the importance of a detailed family history in diagnosing mitochondrial diseases?

It helps in detecting a maternal line of inheritance. Signup and view all the answers