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A progressive disease that often involves complex, involuntary, jerky, writhing movements of entire limbs, and severe mental deterioration, is
Which statement about Huntington's disease is correct?
What testing material is used for SMA newborn screening?
CAG trinucleotide repeat expansion can be used to diagnose which of the following genetic disorder?
A genetic disease that results in degeneration of the anterior horn cells and muscle weakness
Which of the following clinical features is typical in patients with Duchenne muscular dystrophy?
Which statement about Myotonic Dystrophy type 1 (DM1) is correct?
A 20-year-old man has exhibited slowly progressive muscle weakness over the past 5 years. He has no myalgias. He now has difficulty ambulating and picking up heavy objects, even though he used to be a weightlifter. On physical examination there is 4/5 motor strength in proximal muscle groups. Laboratory studies show a serum creatine kinase of 1450 U/L. A muscle biopsy immunohistochemical staining shows focal positivity for dystrophin around the fibers. Which of the following is the most likely diagnosis?
Which of the following CAG repeats would indicate a person will develop Huntington‘s disease?