Muscular Dystrophy Symptoms and Characteristics

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Questions and Answers

What is the primary defect in X-linked pseudohypertrophic muscular dystrophy?

  • Deficiency of a protein called dystrophin
  • Mutation of a large gene located on the short arm of X chromosome (correct)
  • Abnormality on the Y chromosome
  • Mutation of a small gene located on the long arm of X chromosome

Which of the following is a characteristic feature of Beckers muscular dystrophy?

  • Benign course (correct)
  • Intellectual retardation
  • Severe muscle weakness
  • Prominence of calves

What is the mode of inheritance of facio-scapula-humeral muscular dystrophy?

  • X-linked recessive
  • Autosomal dominant (correct)
  • Mitochondrial
  • Autosomal recessive

Limb-girdle muscular dystrophy is inherited in which pattern?

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

Which of the following endocrine disorders can cause a myopathy?

<p>Cushing's syndrome (D)</p> Signup and view all the answers

What is the significance of creatine estimation in urine in children below 2 years?

<p>It is normally present (A)</p> Signup and view all the answers

What is the characteristic feature of muscular dystrophy?

<p>Progressive degeneration of skeletal muscles (A)</p> Signup and view all the answers

Which type of muscular dystrophy is characterized by bilateral, symmetrical, and proximal muscle weakness?

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

What is the typical manner of getting up from the floor observed in patients with muscular dystrophy?

<p>Climbing test or Gower's sign (A)</p> Signup and view all the answers

Which muscle group is typically spared in muscular dystrophy?

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

What is the term for the phenomenon of muscle wasting, accompanied by an apparent increase in muscle size due to fatty infiltration?

<p>Pseudo-hypertrophy (A)</p> Signup and view all the answers

Which type of muscular dystrophy is characterized by weakness and wasting of the facial muscles, as well as the shoulder and arm muscles?

<p>Facio-scapula-humeral Muscular Dystrophy (D)</p> Signup and view all the answers

What is the age of onset for Duchenne's muscular dystrophy?

<p>Within the first 5 years of life (C)</p> Signup and view all the answers

What is the characteristic of Duchenne's muscular dystrophy in terms of dystrophin?

<p>Absent dystrophin or less than 3% normal (C)</p> Signup and view all the answers

What type of muscular dystrophy is characterized by a severe Duchenne subtype and a benign Becker subtype?

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

What is a characteristic of Facio-scapula-humeral muscular dystrophy?

<p>Facio-scapula-humeral type (Landouzy and Dejerine) (D)</p> Signup and view all the answers

What is a complication of progressive muscular dystrophies?

<p>Fibrosis and contractures of the affected muscles (C)</p> Signup and view all the answers

What is a type of limb girdle muscular dystrophy?

<p>Distal type of Gower (C)</p> Signup and view all the answers

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