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Clinical Reasoning: Young adult with dysphagia and severe weight loss

A 20-year-old man presented with progressive dysphagia for 6 months to both liquids and solids with intermittent choking episodes. There was no nasal regurgitation, fatigability, or diurnal variation of dysphagia or difficulty in chewing. He had lost about 80 pounds in 6 months. He felt short of breath after walking for a short distance and climbing 2 flights of stairs and could not lie flat. He described muscle twitching in his face as well as arms and legs. He denied weakness of the upper or lower limbs, sensory symptoms, bladder or bowel problems, or uncontrollable laughing or crying. He had Lyme disease 5 years ago with left-sided facial palsy. The patient was of Hispanic ancestry and family history over 3 generations was negative for neuromuscular disorders, dementia, or prominent psychiatric disorders. On neurologic examination, he had a flat affect but normal bedside screening cognitive functions. His speech was nasal and his voice was hoarse. He had residual left lower motor neuron facial palsy. Cranial nerve V (motor and sensory) functions were normal. Palatal movements and gag reflex were normal. He had bilateral tongue atrophy, weakness, and fasciculations (video 1); perioral fasciculations were also present. There was mild lower limb spasticity and weakness in the following muscles: first dorsal interosseous (FDI) 4+/5, triceps 5–/5, deltoids 4+/5, gluteus maximus 4+/5, neck flexion 4/5. There was wasting of the periscapular muscles and FDI. There was no split hand phenomenon. Fasciculations were present in shoulder, biceps, thighs, and calves. Reflexes were 3+ and symmetrical at the biceps, triceps, brachioradialis, patellae, and ankles with flexor plantar responses; increased finger flexor and crossed adductor reflexes were present. Jaw jerk and snout reflexes were absent. Sensory and cerebellar examination results were normal.

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