Dystrophinopathies: Duchenne and Becker Muscular Dystrophy

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28 Questions

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

Polyneuropathies

What is a common initial presentation in patients with polyneuropathies?

Loss of sensation and paresthesias

Which type of peripheral nerve disorder randomly affects individual nerves?

Mononeuritis multiplex

In which type of nerve disorder do patients commonly experience a 'stocking-and-glove' pattern of sensory loss?

Polyneuropathies

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

Distal segments

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

Mononeuritis multiplex

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

Deletions

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

Dystrophin

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

They are wheelchair-bound

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

Short arm of the X chromosome

Which type of mutation is characteristic of Becker Muscular Dystrophy?

Point mutations

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?

Polymyositis

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

Complete absence of dystrophin

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

Dermatomyositis

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

Polymyositis

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

Polymyositis

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

Duchenne Muscular Dystrophy

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

Dermatomyositis

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

Myasthenia gravis

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

Demyelinating neuropathy

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

Distal symmetric sensorimotor polyneuropathy

What is the main antigenic target in Myasthenia gravis?

AChR

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

Axonal degeneration

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

Lambert-Eaton syndrome

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

Symmetrical mixed sensorimotor polyneuropathy

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

Long-standing disease

Which disorder is associated with thymic hyperplasia or thymoma?

Myasthenia gravis

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

Dystrophinopathies

Learn about Duchenne (DMD) and Becker Muscular Dystrophy (BMD), the most common X-linked muscular dystrophies caused by mutations in the dystrophin gene on the X chromosome. Understand how these disorders affect males and the role of dystrophin in muscle cell stabilization.

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