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You are asked to see a 2-month-old infant girl with hypotonia, macroglossia, failure to thrive, and cardiomyopathy. Muscle biopsy is done due to the hypotonia, and shows PAS+ vacuolar myopathy. What is the best treatment approach?
A 20-year-old female presents to the clinic with weakness and numbness in the right leg. She states that earlier in the day she was taking a long nap on her right side, and when she awoke, her entire leg felt like pins and needles. When she got up, she felt that she was dragging her right leg on the floor. She has had similar experiences in other limbs over the years but symptoms would slowly improve over weeks. Nerve conduction studies showed a right common peroneal nerve conduction block and mildly decreased conduction velocities of all nerves tested. Her mother reports that her father had similar episodes before he passed away from an unrelated illness. Which of the following is the most likely diagnosis?
A 65-year-old man with a past medical history of chronic liver disease and diabetes presents with progressive falls and a tremor. On exam, he is rigid throughout with significant gait instability, a tendency to turn his head to the right, and a hypertrophied left sternocleidomastoid muscle. He fails initial treatment with carbidopa-levodopa. His brain MRI reveals T1 hyperintensities of the bilateral globi pallidi. Which of the following is the most likely diagnosis?
An 8-year-old boy is brought to the neurology clinic due to an 18-month history of repetitive, involuntary movements of his face and body. His mother states that he has been bullied at school because of it, which is causing him significant distress and anxiety. His birth history and developmental history are normal. On physical exam, the patient has excessive blinking and occasionally jerks his right shoulder upwards at rest. The physical exam is otherwise within normal limits. which of the following is the most likely diagnosis?
A patient with Duchenne muscular dystrophy (DMD) most likely has which of the following findings on electromyography (EMG)?
Which of the following is the most appropriate initial screening test for suspected restless leg syndrome?
A 65-year-old man with a history of severe depression is bought to the clinic by his wife after losing 15 pounds in the last month. The patient states that he believes that his stomach and intestines have been removed and that he died several weeks ago. Which of the following is the most likely diagnosis?
Which of the following areas, if selectively lesioned, would cause an error with voluntary vertical saccades with spared horizontal saccades and sparred occulocephalic vertical reflex?
What is the mechanism of action of apixaban?
Which of the following CSF findings would be expected in a patient with AIDP?
A 24-year-old female in her third trimester of pregnancy, with no other past medical history, presents with complaints of 1-2 times monthly episodes of sudden onset severe room spinning, nausea, and vomiting for 3 months. They happen randomly and are not associated with head movement. During an episode, sounds and bright light seem to bother her more. She denies motor weakness or hearing change. Her spells resolve after about 1 hour. She endorses she has had bad headaches in the past, but not with these episodes. She endorses she gets car sick easily. On neurologic examination, she has no focal findings, and her vitals are within normal limits. She had an MRI brain with MRA and MR Venogram, all of which were unremarkable. Which is the most likely etiology?
A 38-year-old male with a history of sarcoidosis and a one-week history of subacute onset of progressive weakness was admitted to the hospital with difficulty ambulating. On examination, you appreciate bilateral lower extremity weakness and hyporeflexia. Based on the clinical history and EMG findings shown below what is the most likely diagnosis?
Anti-GQ1b antibodies are associated with which syndrome?
Which of the following is the mechanism of action of riluzole?