Dystrophinopathies: Duchenne and Becker Muscular Dystrophy
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Questions and Answers

Which type of peripheral nerve disorder is characterized by affected nerves in a symmetric, length-dependent fashion?

  • Neuromuscular junction disorders
  • Polyneuropathies (correct)
  • Mononeuritis multiplex
  • Peripheral nerve myopathies
  • What is a common initial presentation in patients with polyneuropathies?

  • Fluctuating facial droop
  • Visual disturbances
  • Muscle weakness
  • Loss of sensation and paresthesias (correct)
  • Which type of peripheral nerve disorder randomly affects individual nerves?

  • Mononeuritis multiplex (correct)
  • Polyneuropathies
  • Stocking-and-glove syndrome
  • Neuromuscular junction disorders
  • In which type of nerve disorder do patients commonly experience a 'stocking-and-glove' pattern of sensory loss?

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

    Which part of the longest nerves typically shows more pronounced axonal loss in polyneuropathies?

    <p>Distal segments</p> Signup and view all the answers

    Which disorder is characterized by damage to multiple individual nerves, affecting them randomly?

    <p>Mononeuritis multiplex</p> Signup and view all the answers

    Which type of mutation is more common in Duchenne Muscular Dystrophy?

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

    What is the main structural protein affected in Duchenne and Becker Muscular Dystrophy?

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

    What is the typical outcome for most patients with Duchenne Muscular Dystrophy by the time they reach teenage years?

    <p>They are wheelchair-bound</p> Signup and view all the answers

    Where is the dystrophin gene located in individuals with Duchenne and Becker Muscular Dystrophy?

    <p>Short arm of the X chromosome</p> Signup and view all the answers

    Which type of mutation is characteristic of Becker Muscular Dystrophy?

    <p>Point mutations</p> Signup and view all the answers

    What autoimmune disorder is associated with increased expression of MHC class I molecules on myofibers and predominantly endomysial inflammatory infiltrates containing CD8+ cytotoxic T cells?

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

    In a muscle biopsy of a patient with Duchenne Muscular Dystrophy, what is seen immunohistochemically?

    <p>Complete absence of dystrophin</p> Signup and view all the answers

    Which type of inflammatory myopathy is typically associated with skin manifestations?

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

    What disorder is characterized by an autoimmune attack leading to myofiber necrosis and subsequent regeneration?

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

    What is the most common autoimmune disorder characterized by increased expression of MHC class I molecules on myofibers?

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

    Which inflammatory myopathy is mainly associated with bilateral weakness and diminished reflexes?

    <p>Duchenne Muscular Dystrophy</p> Signup and view all the answers

    Which inflammatory myopathy is associated with increased risk of ovarian, gastric, and lymphoma malignancies?

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

    What autoimmune disease is characterized by fluctuating muscle weakness and targeting of the neuromuscular junction?

    <p>Myasthenia gravis</p> Signup and view all the answers

    Which type of peripheral nerve damage is characterized by damage to Schwann cells or myelin with relative axonal sparing?

    <p>Demyelinating neuropathy</p> Signup and view all the answers

    Which type of peripheral neuropathy is the most common form in diabetic patients?

    <p>Distal symmetric sensorimotor polyneuropathy</p> Signup and view all the answers

    What is the main antigenic target in Myasthenia gravis?

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

    What type of peripheral nerve damage involves insults that directly injure the axon?

    <p>Axonal degeneration</p> Signup and view all the answers

    Which disorder is caused by autoantibodies inhibiting the function of presynaptic calcium channels?

    <p>Lambert-Eaton syndrome</p> Signup and view all the answers

    What is the characteristic pattern of attack seen in Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)?

    <p>Symmetrical mixed sensorimotor polyneuropathy</p> Signup and view all the answers

    What is the main cause of peripheral neuropathy in diabetic patients?

    <p>Long-standing disease</p> Signup and view all the answers

    Which disorder is associated with thymic hyperplasia or thymoma?

    <p>Myasthenia gravis</p> Signup and view all the answers

    What is the characteristic feature of Duchenne and Becker Muscular Dystrophy from the given text?

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

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