Are You A Pediatrician? Take This Quiz About Muscular Dystrophy In Children
Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include a delay in walking, difficulty rising from a sitting or lying position, and frequent falling, with weakness typically affecting the shoulder and pelvic muscle as one of the initial symptoms. Are you a pediatrician? Take this quiz about Muscular Dystrophy In Children
- 1.The following symptoms and signs in the neonatal period or infancy may be characteristic of children with a neuromuscular disease except:
- 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.The clinical phenotype of dystrophinopathy includes: , cases with
- 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
Questions: 10 | Attempts: 17966 | Last updated: Mar 22, 2022
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