Muscular Dystrophy: Definition and Types
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Questions and Answers

What is the primary characteristic of muscular dystrophy?

  • Progressive muscle weakness and degeneration (correct)
  • Sudden muscle cramps and stiffness
  • Progressive muscle strength
  • Intermittent muscle paralysis
  • How many types of muscular dystrophy are there?

  • Over 20
  • Over 40
  • Over 30 (correct)
  • Over 10
  • What is the most common form of muscular dystrophy?

  • X-linked Muscular Dystrophy
  • Autosomal Dominant Muscular Dystrophy
  • Becker Muscular Dystrophy
  • Duchenne Muscular Dystrophy (correct)
  • What is the typical age of wheelchair dependence for individuals with Duchenne Muscular Dystrophy?

    <p>Age 12</p> Signup and view all the answers

    What is the primary difference between Duchenne Muscular Dystrophy and Becker Muscular Dystrophy?

    <p>Severity of symptoms</p> Signup and view all the answers

    What is the purpose of electromyography in the diagnosis of muscular dystrophy?

    <p>To evaluate muscle function and detect abnormalities</p> Signup and view all the answers

    What is the goal of treatment and management for individuals with muscular dystrophy?

    <p>To slow disease progression and manage symptoms</p> Signup and view all the answers

    What is being researched and developed as a potential treatment for muscular dystrophy?

    <p>Gene therapy</p> Signup and view all the answers

    What is the primary cause of muscular dystrophy?

    <p>Mutations in genes coding for muscle function and structure proteins</p> Signup and view all the answers

    What is a common symptom of muscular dystrophy?

    <p>Muscle cramps and stiffness</p> Signup and view all the answers

    Which of the following is not a diagnostic test for muscular dystrophy?

    <p>Complete blood count (CBC)</p> Signup and view all the answers

    What is the name of the protein affected in Duchenne Muscular Dystrophy?

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

    What is the purpose of corticosteroids in the treatment of muscular dystrophy?

    <p>To slow muscle degeneration and reduce inflammation</p> Signup and view all the answers

    What is the primary goal of gene therapy in the treatment of muscular dystrophy?

    <p>To repair or replace the defective gene</p> Signup and view all the answers

    What is the life expectancy of individuals with Duchenne Muscular Dystrophy?

    <p>Typically mid-to-late teens to early twenties</p> Signup and view all the answers

    What is the primary focus of supportive care in the treatment of muscular dystrophy?

    <p>To manage symptoms and improve quality of life</p> Signup and view all the answers

    Study Notes

    Definition and Types

    • Muscular dystrophy (MD) is a group of genetic disorders characterized by progressive muscle weakness and degeneration.
    • There are over 30 types of MD, each with distinct genetic and clinical features.

    Causes and Inheritance

    • MD is caused by mutations in genes that encode proteins essential for muscle function and structure.
    • Most forms of MD are inherited in an autosomal recessive or X-linked recessive pattern.
    • Some types of MD can be inherited in an autosomal dominant pattern.

    Symptoms and Diagnosis

    • Progressive muscle weakness and wasting
    • Muscle cramps and stiffness
    • Difficulty walking, running, or climbing stairs
    • Respiratory and cardiac problems in some cases
    • Diagnosis typically involves:
      • Clinical evaluation
      • Genetic testing
      • Electromyography (EMG)
      • Muscle biopsy

    Duchenne Muscular Dystrophy (DMD)

    • Most common and severe form of MD
    • Affects 1 in 5,000 boys
    • Caused by mutations in the dystrophin gene
    • Symptoms typically appear in early childhood
    • Progressive muscle weakness and degeneration lead to wheelchair dependence by age 12
    • Respiratory and cardiac complications are common

    Becker Muscular Dystrophy (BMD)

    • Similar to DMD, but with a milder course
    • Affects 1 in 30,000 boys
    • Caused by mutations in the dystrophin gene
    • Symptoms typically appear in late childhood or adolescence
    • Muscle weakness and degeneration progress slowly, but may still lead to wheelchair dependence

    Treatment and Management

    • There is no cure for MD, but various treatments can help manage symptoms and slow disease progression:
      • Physical therapy and exercise to maintain muscle strength and function
      • Orthotics and assistive devices to aid mobility
      • Medications to manage pain, muscle cramps, and respiratory complications
      • Respiratory and cardiac care to manage related complications
      • Gene therapy and other emerging treatments are being researched and developed

    Definition and Types

    • Muscular dystrophy (MD) is a group of genetic disorders characterized by progressive muscle weakness and degeneration.
    • There are over 30 types of MD, each with distinct genetic and clinical features.

    Causes and Inheritance

    • MD is caused by mutations in genes that encode proteins essential for muscle function and structure.
    • Most forms of MD are inherited in an autosomal recessive or X-linked recessive pattern.
    • Some types of MD can be inherited in an autosomal dominant pattern.

    Symptoms and Diagnosis

    • Progressive muscle weakness and wasting
    • Muscle cramps and stiffness
    • Difficulty walking, running, or climbing stairs
    • Respiratory and cardiac problems in some cases
    • Diagnosis typically involves clinical evaluation, genetic testing, electromyography (EMG), and muscle biopsy.

    Duchenne Muscular Dystrophy (DMD)

    • Most common and severe form of MD
    • Affects 1 in 5,000 boys
    • Caused by mutations in the dystrophin gene
    • Symptoms typically appear in early childhood
    • Progressive muscle weakness and degeneration lead to wheelchair dependence by age 12
    • Respiratory and cardiac complications are common

    Becker Muscular Dystrophy (BMD)

    • Similar to DMD, but with a milder course
    • Affects 1 in 30,000 boys
    • Caused by mutations in the dystrophin gene
    • Symptoms typically appear in late childhood or adolescence
    • Muscle weakness and degeneration progress slowly, but may still lead to wheelchair dependence

    Treatment and Management

    • There is no cure for MD, but various treatments can help manage symptoms and slow disease progression:
      • Physical therapy and exercise to maintain muscle strength and function
      • Orthotics and assistive devices to aid mobility
      • Medications to manage pain, muscle cramps, and respiratory complications
      • Respiratory and cardiac care to manage related complications
      • Gene therapy and other emerging treatments are being researched and developed

    Genetic Mutations

    • Muscular dystrophy is caused by genetic mutations affecting genes necessary for muscle function and structure, leading to progressive muscle weakness and degeneration.
    • These mutations can be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive pattern.

    Symptoms

    • Progressive muscle weakness and wasting are hallmarks of muscular dystrophy.
    • Muscle cramps, stiffness, and fatigue are common symptoms.
    • Difficulty walking, running, or climbing stairs is often reported.
    • Respiratory difficulties, cardiac problems, and intellectual disability can also occur.

    Diagnosis

    • A clinical evaluation involves a medical history, physical examination, and muscle strength testing.
    • Laboratory tests include creatine kinase (CK) level, genetic testing, and muscle biopsy.
    • Imaging studies used for diagnosis include electromyography (EMG), muscle ultrasound, and MRI.
    • Genetic testing involves DNA analysis to identify specific mutations.

    Duchenne Muscular Dystrophy

    • Duchenne muscular dystrophy is the most common and severe form of muscular dystrophy.
    • It is caused by a mutation in the DMD gene, which codes for dystrophin protein.
    • The condition affects 1 in 5,000 to 1 in 10,000 male births.
    • Symptoms appear in early childhood (2-6 years) and worsen rapidly.
    • Life expectancy is typically mid-to-late teens to early twenties.

    Treatment Options

    • Supportive care involves physical therapy, occupational therapy, and respiratory care to manage symptoms and improve quality of life.
    • Medications include corticosteroids to slow muscle degeneration and reduce inflammation.
    • Experimental treatments include gene therapy to repair or replace the defective gene.
    • Stem cell therapy is being explored to regenerate muscle tissue.
    • Surgical interventions may be necessary for complications such as scoliosis correction and cardiac surgery.

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    Description

    This quiz covers the definition and types of muscular dystrophy, a group of genetic disorders that affect muscle function and structure.

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