Duchenne Muscular Dystrophy and Leigh's Disease
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Duchenne Muscular Dystrophy and Leigh's Disease

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Questions and Answers

What is the typical age by which most individuals are wheelchair dependent?

  • Age 15 (correct)
  • Age 10
  • Age 20
  • Age 25

    • Which diagnostic method can indicate elevated levels of Serum Creatine phosphokinase (CK)?

  • Urine Analysis
  • Electromyography
  • Muscle biopsy (correct)
  • Nerve Conduction Velocity Study

    • What is a characteristic change in Serum Creatine phosphokinase levels as the disease progresses?

  • Levels approach near-normal in end-stage disease (correct)
  • Levels remain constant
  • Levels increase indefinitely
  • Levels decrease dramatically at onset

    • What is the primary purpose of electromyography in the diagnostic process?

    <p>To exclude primarily neurogenic processes</p> Signup and view all the answers

    What is a common outcome associated with muscle fiber necrosis?

    <p>Replacement with adipose and connective tissue</p> Signup and view all the answers

    What is a common symptom of early-onset Leigh syndrome in infants?

    <p>Loss of sucking ability</p> Signup and view all the answers

    What primarily distinguishes late-onset Leigh syndrome from early-onset?

    <p>Onset of symptoms typically occurs after age 2</p> Signup and view all the answers

    Which of the following causes of Leigh syndrome is NOT mentioned?

    <p>Deficiencies in glucose-6-phosphate</p> Signup and view all the answers

    How does Leigh-like syndrome differ from classic Leigh syndrome?

    <p>Symptoms are always absent on imaging scans</p> Signup and view all the answers

    Which of the following statements about the progression of symptoms in early-onset and late-onset Leigh syndrome is accurate?

    <p>Early-onset symptoms may include lactic acidosis</p> Signup and view all the answers

    What is the primary cause of Duchenne muscular dystrophy?

    <p>Mutation in the dystrophin gene</p> Signup and view all the answers

    Which of the following accurately describes the inheritance pattern of Duchenne muscular dystrophy?

    <p>X-linked recessive</p> Signup and view all the answers

    Which cellular structure is primarily affected in cystic fibrosis?

    <p>Cell membrane</p> Signup and view all the answers

    What role does dystrophin play in healthy muscle cells?

    <p>Providing structural support</p> Signup and view all the answers

    What is the consequence of the absence of dystrophin in muscle cells?

    <p>Increased susceptibility to injury</p> Signup and view all the answers

    Which disease is associated with lysosomal dysfunction?

    <p>Mucopolysaccharidosis</p> Signup and view all the answers

    Which of the following groups is accurately linked to Duchenne muscular dystrophy characteristics?

    <p>Genetically determined and progressive diseases</p> Signup and view all the answers

    What is the general prevalence of Duchenne muscular dystrophy in males?

    <p>1 in 3500</p> Signup and view all the answers

    What is the primary characteristic of lactic acidosis?

    <p>Accumulation of lactic acid in bodily tissues</p> Signup and view all the answers

    Which of the following is NOT a mechanism of inheritance for Leigh syndrome?

    <p>Autosomal dominant disorder</p> Signup and view all the answers

    What is the impact of mutated genes on cellular metabolism in Leigh syndrome?

    <p>Disrupts the ability to produce ATP</p> Signup and view all the answers

    How has the terminology surrounding Leigh syndrome evolved?

    <p>From a single entity to a heterogeneous disorder</p> Signup and view all the answers

    Which system is most affected by Leigh syndrome due to its high energy demand?

    <p>Nervous system</p> Signup and view all the answers

    What is the common prognosis for individuals affected by Leigh syndrome?

    <p>Most individuals die from sudden respiratory failure</p> Signup and view all the answers

    What aspect of cellular function do mitochondria primarily influence?

    <p>ATP production</p> Signup and view all the answers

    Which condition becomes clearer as a complication of Leigh syndrome during febrile illness?

    <p>Acute respiratory failure</p> Signup and view all the answers

    What is the primary challenge in predicting fatal respiratory failure in Leigh syndrome?

    <p>Development of brain stem lesions is unpredictable.</p> Signup and view all the answers

    Which treatment has shown no definitive clinical improvement in Leigh syndrome patients?

    <p>Oxidative phosphorylation cofactors</p> Signup and view all the answers

    What is a characteristic of Wolcott-Rallison syndrome?

    <p>It results in early-onset diabetes mellitus and liver dysfunction.</p> Signup and view all the answers

    How does the EIF2AK3 gene contribute to endoplasmic reticulum stress?

    <p>Its mutation impairs the Unfolded Protein Response.</p> Signup and view all the answers

    What is the main dietary treatment suggested for newly diagnosed patients with biotin responsive basal ganglia disease (BBGD)?

    <p>High dose biotin and thiamine</p> Signup and view all the answers

    What effect do protein folding defects have on cells?

    <p>They contribute to an accumulation of misfolded proteins.</p> Signup and view all the answers

    Why is malnutrition a significant concern in the treatment of Leigh syndrome?

    <p>It must be corrected to optimize treatment outcomes.</p> Signup and view all the answers

    What role does the Unfolded Protein Response (UPR) play in cellular health?

    <p>It regulates protein production in response to ER stress.</p> Signup and view all the answers

    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.

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