WorksheetsGenetics Quiz 1
Total questions: 10
Worksheet time: 20mins
Which of the following clinical findings is more characteristic of a congenital dystrophy than a congenital myopathy?
early fibrosis in muscles
joint contractures
presentation in infancy
profound weakness
Which of the following manifestations of muscular dystrophy is more prominent among individuals with the Becker phenotype than in those with the Duchenne phenotype?
cardiomyopathy
cognitive impairment
hypertrophy of the calf
involvement of the lungs
Which of the following mechanisms of action is responsible for the efficacy of eteplirsen in patients with muscular dystrophy?
decrease in inflammation
delivery of micro-dystrophin
partial restoration of dystrophin
prevention of fibrosis
A clinician examining a 15-month-old girl with facial weakness suspects a facioscapulohumeral muscle disorder. To confirm the diagnosis, which of the following tests should be performed first?
EMG
Genetic Testing
MRI
Muscle Biopsy
Which of the following muscles is often the earliest affected in a patient with a facioscapulohumeral muscle disorder?
anterior tibalis
biceps
orbicularis oris
semimembranosus
Which of the following pathophysiologic mechanisms describes the etiology of facioscapulohumeral muscle disorders?
hypermethylation of repeats on chromosome 4
loss of open reading frames on chromosome 4
mutations in genes associated with metabolism of RNA
overexpression of DUX4
Which of the following abnormalities is responsible for the myotonia observed in patients with myotonic muscular dystrophies?
abnormal translation of muscleblind proteins
absence of functional chloride channel
repeat expansion of coding regions
splicing out of exon 7A
Which of the following is the most common cause of death in patients with myotonic dystrophy type 1?
cancer
cardiac arrhythmia
cardiomyopathy
pulmonary complications
Which of the following characteristics is more typical of myotonic muscular dystrophy type 2 than of myotonic muscular dystrophy type 1?
avoidant personality disorder
cardiac conduction disorders
early truncal weakness
early-onset cataracts
A 29-year-old man is diagnosed with myotonic dystrophy type 2. Which of the following procedures or evaluations should be part of the routine management of this patient?
genetic counseling
muscle biopsy
needle EMG
neuropsychiatric testing
