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A 4-year-old male is brought to your clinic by his father who states that he has been experiencing random jerky movements of his arms and his neck for the past year. His father states that the jerky movements have not gotten worse over time but tend to appear more when the boy is agitated or under stress. The movements cease when he is asleep. The patient has otherwise been meeting all of his developmental milestones. Genetic testing reveals a mutation in TITF1, a thyroid transcription factor. What is the diagnosis?
A 5-year-old boy is seen in the clinic for seizures, vision loss, and progressive loss of milestones. MRI of the brain shows a posterior predominant leukodystrophy. Which of the following is the most likely diagnosis?
A 6-year-old female is seen in the clinic for decreased balance and numbness in her fingers and toes. Her father, who is with her at the clinic visit, states that she was developmentally normal until 2 years of age, at which time she began to have frequent falls. During the past year, she has also developed slurred speech. The neurological exam reveals truncal ataxia, ataxic gait, scanning speech, and decreased sensation to vibration and pinprick in her extremities. The ocular exam reveals irregular capillary dilation of the retina and skin. What is the most likely diagnosis?
Which of the following findings is depicted in the MR Angiogram shown below?
A 68-year-old female presents to your clinic with the chief complaint of daytime somnolence. She endorses an unpleasant feeling in her lower extremities while trying to go to bed which prevents her from sleeping. Moving her limbs gives transient relief. What is the most appropriate first diagnostic test?
Which of the following is the mechanism of action for aducanumab?
A 42-year-old woman with major depressive disorder and anxiety who has recently completed treatment for gambling addiction presents with a unilateral upper extremity resting tremor and the feeling that she is “stiff all of the time”. Her husband remarks that she has become much more soft-spoken lately and that five years ago she began acting out her dreams. Which of the following medications should be avoided in this patient?
Which of the following is not a recommended screening test for cognitive dysfunction?