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Questions and Answers
What is the typical age by which most individuals are wheelchair dependent?
What is the typical age by which most individuals are wheelchair dependent?
Which diagnostic method can indicate elevated levels of Serum Creatine phosphokinase (CK)?
Which diagnostic method can indicate elevated levels of Serum Creatine phosphokinase (CK)?
What is a characteristic change in Serum Creatine phosphokinase levels as the disease progresses?
What is a characteristic change in Serum Creatine phosphokinase levels as the disease progresses?
What is the primary purpose of electromyography in the diagnostic process?
What is the primary purpose of electromyography in the diagnostic process?
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What is a common outcome associated with muscle fiber necrosis?
What is a common outcome associated with muscle fiber necrosis?
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What is a common symptom of early-onset Leigh syndrome in infants?
What is a common symptom of early-onset Leigh syndrome in infants?
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What primarily distinguishes late-onset Leigh syndrome from early-onset?
What primarily distinguishes late-onset Leigh syndrome from early-onset?
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Which of the following causes of Leigh syndrome is NOT mentioned?
Which of the following causes of Leigh syndrome is NOT mentioned?
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How does Leigh-like syndrome differ from classic Leigh syndrome?
How does Leigh-like syndrome differ from classic Leigh syndrome?
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Which of the following statements about the progression of symptoms in early-onset and late-onset Leigh syndrome is accurate?
Which of the following statements about the progression of symptoms in early-onset and late-onset Leigh syndrome is accurate?
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What is the primary cause of Duchenne muscular dystrophy?
What is the primary cause of Duchenne muscular dystrophy?
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Which of the following accurately describes the inheritance pattern of Duchenne muscular dystrophy?
Which of the following accurately describes the inheritance pattern of Duchenne muscular dystrophy?
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Which cellular structure is primarily affected in cystic fibrosis?
Which cellular structure is primarily affected in cystic fibrosis?
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What role does dystrophin play in healthy muscle cells?
What role does dystrophin play in healthy muscle cells?
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What is the consequence of the absence of dystrophin in muscle cells?
What is the consequence of the absence of dystrophin in muscle cells?
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Which disease is associated with lysosomal dysfunction?
Which disease is associated with lysosomal dysfunction?
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Which of the following groups is accurately linked to Duchenne muscular dystrophy characteristics?
Which of the following groups is accurately linked to Duchenne muscular dystrophy characteristics?
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What is the general prevalence of Duchenne muscular dystrophy in males?
What is the general prevalence of Duchenne muscular dystrophy in males?
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What is the primary characteristic of lactic acidosis?
What is the primary characteristic of lactic acidosis?
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Which of the following is NOT a mechanism of inheritance for Leigh syndrome?
Which of the following is NOT a mechanism of inheritance for Leigh syndrome?
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What is the impact of mutated genes on cellular metabolism in Leigh syndrome?
What is the impact of mutated genes on cellular metabolism in Leigh syndrome?
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How has the terminology surrounding Leigh syndrome evolved?
How has the terminology surrounding Leigh syndrome evolved?
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Which system is most affected by Leigh syndrome due to its high energy demand?
Which system is most affected by Leigh syndrome due to its high energy demand?
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What is the common prognosis for individuals affected by Leigh syndrome?
What is the common prognosis for individuals affected by Leigh syndrome?
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What aspect of cellular function do mitochondria primarily influence?
What aspect of cellular function do mitochondria primarily influence?
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Which condition becomes clearer as a complication of Leigh syndrome during febrile illness?
Which condition becomes clearer as a complication of Leigh syndrome during febrile illness?
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What is the primary challenge in predicting fatal respiratory failure in Leigh syndrome?
What is the primary challenge in predicting fatal respiratory failure in Leigh syndrome?
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Which treatment has shown no definitive clinical improvement in Leigh syndrome patients?
Which treatment has shown no definitive clinical improvement in Leigh syndrome patients?
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What is a characteristic of Wolcott-Rallison syndrome?
What is a characteristic of Wolcott-Rallison syndrome?
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How does the EIF2AK3 gene contribute to endoplasmic reticulum stress?
How does the EIF2AK3 gene contribute to endoplasmic reticulum stress?
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What is the main dietary treatment suggested for newly diagnosed patients with biotin responsive basal ganglia disease (BBGD)?
What is the main dietary treatment suggested for newly diagnosed patients with biotin responsive basal ganglia disease (BBGD)?
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What effect do protein folding defects have on cells?
What effect do protein folding defects have on cells?
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Why is malnutrition a significant concern in the treatment of Leigh syndrome?
Why is malnutrition a significant concern in the treatment of Leigh syndrome?
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What role does the Unfolded Protein Response (UPR) play in cellular health?
What role does the Unfolded Protein Response (UPR) play in cellular health?
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Study Notes
Duchenne Muscular Dystrophy
- A genetically determined progressive disease of skeletal muscle without inflammation or neurological causes.
- Affects 1 in 3,500 boys worldwide.
- Primarily seen in males, except in females with Turner's Syndrome.
- Inherited in an X-linked recessive pattern (defect at Xp21 locus).
- Females are typically carriers, while males are affected.
- Caused by mutations in the dystrophin gene, the largest gene located on the human X chromosome.
- Dystrophin deficiency leads to muscle weakness, breakdown, and ultimately, death.
- Diagnosed through serum creatine phosphokinase (CPK) levels, electromyography, nerve conduction velocity studies, muscle biopsy, and imaging studies.
- Prognosis: most patients are unable to walk independently by age 10, become wheelchair bound by age 15, and die of cardio-respiratory problems by age 25-30.
Leigh's Disease
- A rare neurometabolic disorder affecting approximately 1 in 40,000 newborns.
- Commonly affects infants but can occur in teenagers and adults.
- Characterized by neurological symptoms, including loss of sucking ability, head control, motor skills, weakness, muscle loss, and lactic acidosis.
- Causes: mutations in mitochondrial DNA or deficiencies in pyruvate dehydrogenase, an enzyme.
- Symptoms: Early symptoms include difficulty sucking, head control, and motor skill difficulties. Later symptoms include weakness, muscle loss, lactic acidosis, and organ system involvement.
- Treatment: No definitive cure. Currently, treatment focuses on managing symptoms and improving quality of life.
Wolcott-Rallison Syndrome
- A rare disease associated with endoplasmic reticulum (ER) dysfunction.
- Characterized by early-onset diabetes mellitus, multiple epiphyseal dysplasia (a skeletal disorder), and liver dysfunction.
- Caused by mutations in the EIF2AK3 gene, also known as PERK.
- Mutations lead to impaired unfolded protein response (UPR) activation, accumulation of misfolded proteins, and ER stress.
- Impaired protein folding further disrupts ER function, leading to a cascade of cellular dysfunction.
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Description
Explore key concepts surrounding Duchenne Muscular Dystrophy and Leigh's Disease, including their genetic causes, prevalence, and diagnostic approaches. Understand the implications of these diseases on patients, especially focusing on their progression and prognosis. This quiz is essential for anyone studying genetics or neuromuscular disorders.
