Quiz 07/09/2022 (1)

Gaucher disease is caused by a homozygous mutation in the GBA gene which encodes the enzyme beta-glucocerebrosidase. Which of the following neurologic disorders is also linked to mutations, both homozygous and heterozygous, in the GBA gene?

A 6-month-old previously healthy male is seen in your clinic due to feeding difficulties and weakness for the past 8 days. The mother reports that he has also not had a bowel movement in 3 days. On physical exam, the patient demonstrates a weak cry, severe hypotonia, and hypo-responsiveness. No one else in the family is sick, however, they have been eating homemade molasses for the past 4 weeks. This patient’s condition is caused by a toxin affecting which structure?

Charcot Marie Tooth disease (CMT) is associated with which of the following pathologic findings?

A 21-year-old woman with a past medical history of depression presents with recurrent episodes of out-of-body sensations lasting 30 seconds. This may be followed by 1-2 minutes of staring and unresponsiveness that she does not remember. She often remains confused for 10 minutes after an event. They occur 1-3 times every 2 weeks. An MRI brain is done and shows no pathology. Which test is the most diagnostically valuable next step in her workup?

An unresponsive patient with an ischemic stroke is transferred to the intensive care unit. On physical exam, the patient has flexion of the bilateral elbows, wrists, and fingers, but extension of the legs. Where is the stroke most likely located?

Which of the following direct dopamine agonists are the most effective in the management of severe “off” phenomenon related to chronic levodopa use in the management of advanced Parkinson’s disease?

Which of the following is the mechanism of action of prazosin?

An abnormal breathing pattern described as an initial prolonged inspiratory phase, inspiratory pause, and then incomplete expiration can localize to damage of which of the following regions along the neuraxis?

A 56-year-old male with a past medical history of smoking presents to the clinic with the chief complaint of a 1-month history of progressive muscle weakness. Interestingly, he notes that his strength seems to improve with repeated use. The physical examination is notable for proximal muscle weakness of the bilateral lower extremities and areflexia in all extremities. Serology and electrodiagnostic testing confirm the diagnosis. What is the first-line therapy for symptomatic management?

Other than optic neuritis, which of the following is another typical MRI finding in patients with neuromyelitis optica (NMO) that has diagnostic value?