Muscular Dystrophy In Children

28 Questions | Total Attempts: 266

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Children Quizzes & Trivia

This quiz covers the clinical history, examination, investigations, complications and multi-disciplinary management of childhood muscular dystrophy.


Questions and Answers
  • 1. 
    • A. 

      Arthrogryposis

    • B. 

      Hypotonia

    • C. 

      Feeding difficulties

    • D. 

      Unexplained respiratory problems

    • E. 

      Toe walking

  • 2. 
    The Duchenne and Becker muscular dystrophies are the most common paediatric muscular dystrophies.
    • A. 

      True

    • B. 

      False

  • 3. 
    The Duchenne and Becker muscular dystrophies have X-linked recessive mode of inheritance.
    • A. 

      True

    • B. 

      False

  • 4. 
    Which of the following is not a goal for management of inherited neuromuscular diseases?
    • A. 

      Family support and education

    • B. 

      Prevention and management of complications

    • C. 

      Genetic therapy

    • D. 

      Enhancing functional skills

    • E. 

      Palliation of symptoms

  • 5. 
    Pregnancy with a foetus with a muscular dystrophy  may be complicated by polyhydramnios and reduced foetal movement.
    • A. 

      True

    • B. 

      False

  • 6. 
    Children with a muscular dystrophy may present  later in childhood they with toe walking or global developmental delay.
    • A. 

      True

    • B. 

      False

  • 7. 
    DNA analysis in Duchenne or Becker muscular dystrophy demonstrates a deletion or duplication in the dystrophin gene.
    • A. 

      True

    • B. 

      False

  • 8. 
    Analysis of muscle biopsy may include: Haematoxylin and eosin, fibre typing, immunohistochemistry, oxidative enzyme staining, immunoblotting, enzyme analysis, mitochondrial DNA analysis and electron-microscopy.
    • A. 

      True

    • B. 

      False

  • 9. 
    EMG in children with a muscular dystrophy may show a clear myopathic or denervating pattern.
    • A. 

      True

    • B. 

      False

  • 10. 
    Muscle ultrasound can be valuable in detecting myopathies and muscular dystrophies,  associated with increased echogenicity of involved muscles.
    • A. 

      True

    • B. 

      False

  • 11. 
    MRI cannot help to identify the pattern of muscle groups involved in muscle dystrophy. 
    • A. 

      True

    • B. 

      False

  • 12. 
    The characteristic findings of dystrophic changes on muscle biopsy include:
    • A. 

      Variation in fibre size

    • B. 

      Fibre splitting

    • C. 

      Necrotic fibres,

    • D. 

      Excess of fatty tissue

    • E. 

      Reduced fibrous tissue

  • 13. 
    Classification of childhood muscular dystrophy can be defined at the level of the specific protein deficiency by immunohistochemistry and immunoblotting and at DNA level by mutation analysis.
    • A. 

      True

    • B. 

      False

  • 14. 
    What proportion of of males with dystrophinopathy have a deletion mutation of one or more exons of the dystrophin gene.
    • A. 

      50%

    • B. 

      25%

    • C. 

      65%

    • D. 

      10%

  • 15. 
    About 5% of males with dystrophinopathy have a duplication of one or more exons of the gene while 30% have point mutations.
    • A. 

      True

    • B. 

      False

  • 16. 
    Approximately two-thirds of the dystrophin gene mutations are new mutations.
    • A. 

      True

    • B. 

      False

  • 17. 
    The clinical phenotype of the muscular dystrophy depends on the amount of functional dystrophin present in the muscles.
    • A. 

      True

    • B. 

      False

  • 18. 
    • A. 

      Asymptomatic patients with elevated creatine kinase (CK) only

    • B. 

      Patients with cramps and myalgia only

    • C. 

      Patients with dilated cardiomyopathy and no skeletal muscle involvement

    • D. 

      Carrier females with cardiac involvement without muscle weakness

    • E. 

      Carrier females with demonstrable muscle weakness

  • 19. 
    About 17% of female carriers have some demonstrable muscle weakness.
    • A. 

      True

    • B. 

      False

  • 20. 
    Boys with the more severe Duchenne phenotype have absence of dystrophin, males with the milder Becker phenotype have partial dystrophin deficiency.
    • A. 

      True

    • B. 

      False

  • 21. 
    Approximately 8% of  female carriers show evidence of dilated cardiomyopathy with or without muscle weakness.
    • A. 

      True

    • B. 

      False

  • 22. 
    Most patients with Duchenne’s disease become immobile before the age of 13 years and usually die before 25 years.
    • A. 

      True

    • B. 

      False

  • 23. 
    Most patients with Becker’s type have a milder disease and remain ambulant into their forties or beyond.
    • A. 

      True

    • B. 

      False

  • 24. 
    Common causes of death in patients with muscular dystrophy include:
    • A. 

      Respiratory infections/ insufficiency

    • B. 

      Urinary tract infections

    • C. 

      Learning Difficulties

    • D. 

      Cardiac failure

  • 25. 
    Dystrophin is a 427 kDa protein, which forms part of the complex cytoskeleton of the muscle cell plasma membrane.
    • A. 

      True

    • B. 

      False

  • 26. 
    Clinical complications of muscular dystrophy in childhood include:
    • A. 

      Dilated cardiomyopathy

    • B. 

      Rhabdomyolysis and acute renal failure

    • C. 

      Tachyphylaxis to depolarising neuromuscular blocking drugs

    • D. 

      Nocturnal hypoventilation desaturation during REM sleep

    • E. 

      Kyphoscoliosis

  • 27. 
    Other frequent complications of muscular dystrophy in childhood include learning disabilities, malnutrition, muscle contractures, squint, depression or anxiety disorders and respiratory insufficiency.
    • A. 

      True

    • B. 

      False

  • 28. 
    A large multidisciplinary team managing chidren with muscular dystrophy include paediatricians, ophthalmologists, neurosurgeons, orthopaedic surgeon, cardiologists, clinical geneticist, psychiatrists, psychologists, social workers, physiotherapists and occupational therapist.
    • A. 

      True

    • B. 

      False