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 (C)</p> Signup and view all the answers

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

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

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

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

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

<p>Deletions (D)</p> Signup and view all the answers

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

<p>Dystrophin (A)</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 (C)</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 (A)</p> Signup and view all the answers

Which type of mutation is characteristic of Becker Muscular Dystrophy?

<p>Point mutations (A)</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 (A)</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 (D)</p> Signup and view all the answers

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

<p>Dermatomyositis (D)</p> Signup and view all the answers

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

<p>Polymyositis (C)</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 (A)</p> Signup and view all the answers

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

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

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

<p>Dermatomyositis (B)</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 (C)</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 (C)</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 (C)</p> Signup and view all the answers

What is the main antigenic target in Myasthenia gravis?

<p>AChR (B)</p> Signup and view all the answers

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

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

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

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

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

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

Which disorder is associated with thymic hyperplasia or thymoma?

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

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

<p>Dystrophinopathies (A)</p> Signup and view all the answers

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