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CASE PRESENTATION
A 49-year-old woman was referred to Mayo Clinic for a 10-year history of progressive shortness of breath. Initially this was attributed to depression because when her depression was well-medicated, her shortness of breath improved. However, for several months prior to presentation, her shortness of breath worsened, and she had frequent, severe, pounding headaches upon awakening. When evaluated, the patient was short of breath even at rest. Lying down or minimal physical activity worsened her dyspnea. She was unable to work because of her symptoms. She also noted progressive weakness affecting her legs more than her arms. She had difficulty to rising from the floor. She had no ptosis, diplopia, dysphagia, numbness, paresthesias, neck or shoulder pain, muscle cramps, or fasciculations.
She had a 30-pack-year history of smoking but had not smoked for 15 years prior to presentation. She denied asthma, wheezing, cough, previous deep vein thrombosis or pulmonary embolism, recurrent lung infections, or any other pulmonary problems. Her mother had type 2 diabetes mellitus. Two maternal aunts were known to have cardiomyopathy, though the details were unknown.
NEUROLOGIC EXAMINATION
General examination showed an obese patient (body mass index 36.7) on 2 L of oxygen by nasal cannula. Inspiratory effort was poor with audible fine crackles on deep inspiration. She had paradoxical breathing in the supine position. A grade 2/6 systolic heart murmur was present along both sides of the sternum. There was no peripheral edema.
Neurologic examination revealed normal mental status. Cranial nerve examination including funduscopy was normal. There was mild, symmetric weakness of the deltoid, biceps, and iliopsoas muscles bilaterally. Muscle stretch reflexes were normal, plantar responses were flexor, and muscle tone was normal. Pain and joint position sense were normal. She was able to rise from sitting without using her arms. She was able to walk on heels and toes …
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