Myopathy: Muscle Disease Types and Classifications
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Myopathy: Muscle Disease Types and Classifications

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Questions and Answers

What is the primary difference between muscular dystrophies and congenital myopathies?

  • Inheritance pattern
  • Age of onset
  • Level of creatine phosphokinase
  • Presence of necrotic changes (correct)
  • What is the typical effect of myopathy on skeletal muscles?

  • Enhanced muscle tone
  • Hypertrophy of proximal muscles
  • Paralysis of distal muscles
  • Weakening and atrophy of proximal muscles (correct)
  • What is the characteristic feature of hereditary myopathies?

  • Mutations in genes encoding neuronal proteins
  • Mutations in genes encoding proteins involved in muscle structure and function (correct)
  • Mutations in genes encoding mitochondrial proteins
  • Mutations in genes encoding hormonal receptors
  • What is the genetic basis of Duchenne and Becker muscular dystrophy?

    <p>Mutations on the X chromosome</p> Signup and view all the answers

    How many genes are responsible for the development of muscular dystrophies?

    <p>At least 30 genes</p> Signup and view all the answers

    What is the characteristic of muscle weakness in Polymyositis?

    <p>It is severe and may fluctuate over weeks to months</p> Signup and view all the answers

    Which type of myopathies results from defects in cellular energy metabolism?

    <p>Metabolic myopathies</p> Signup and view all the answers

    What is the characteristic skin symptom of Dermatomyositis?

    <p>A purple discoloration around the eyes and on the cheeks</p> Signup and view all the answers

    What is the primary cause of Mitochondrial myopathies?

    <p>Primary dysfunction of the mitochondrial respiratory chain</p> Signup and view all the answers

    What is the age range in which Dermatomyositis most commonly develops?

    <p>Between 5 and 14 years</p> Signup and view all the answers

    Study Notes

    Myopathy Definition

    • Myopathy is a muscle disease unrelated to innervation or neuromuscular junction disorders, with various etiologies.

    General Characteristics

    • Most types of myopathy result in weakening and atrophy of skeletal muscles, specifically proximal muscles (thigh and shoulder muscles).

    Hereditary Myopathies

    • Hereditary myopathies are inherited disorders primarily affecting skeletal muscle tissue, caused by mutations in genes encoding proteins crucial for muscle structure and function.

    Muscular Dystrophies

    • Muscular dystrophies are a heterogeneous group of hereditary illnesses affecting both children and adults, with at least 30 different genes responsible for the disease development.
    • The most common muscular dystrophies are Duchenne and Becker muscular dystrophy, resulting from a genetic defect on the X chromosome.
    • These diseases are characterized by muscle wasting and weakness, with elevated levels of creatine phosphokinase (CPK).

    Congenital Myopathies

    • Congenital myopathies are present at birth, with no necrotic or degenerative changes, and CPK levels are often normal.
    • This group includes conditions such as nemaline myopathy, central core disease, X-linked myotubular myopathy, and centronuclear myopathy.

    Metabolic Myopathies

    • Metabolic myopathies comprise a diverse group of disorders arising from defects in cellular energy metabolism, including the breakdown of fatty acids and carbohydrates to generate ATP.
    • Reduction of ATP is a key feature of these disorders.

    Mitochondrial Myopathies

    • Mitochondrial myopathies result from primary dysfunction of the mitochondrial respiratory chain, causing muscle disease.
    • These disorders have genetic etiologies and can frequently present with multi-system dysfunction.

    Genetic Defects

    • Genetic defects in calcium, sodium, potassium, and chloride channels in skeletal muscles result in periodic paralyses and nondystrophic myotonias.
    • This group of diseases includes myotonia congenita, paramyotonia congenita, hyper and hypokalemic periodic paralysis, and potassium-aggravated myotonia.

    Idiopathic Inflammatory Myopathies

    • Polymyositis (PM) causes muscle aches, cramping, and tenderness, with severe muscle weakness that may fluctuate over weeks to months.
    • Dermatomyositis (DM) is characterized by a skin rash, in addition to muscle symptoms of PM, and often affects children between the ages of 5 and 14 years.

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    Description

    Learn about the different types of myopathy, a muscle disease that affects skeletal muscles. Explore hereditary myopathies and their causes.

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