This man with a positive family history of this disease presents with leg pain, exacerbated by deep palpation of the muscles. He also complains of colicky abdominal pain, constipation, diarrhea, and dysphagia. Recently, his cardiologist told him he had atrial flutter, his primary care doctor noted primary hypogonadism and testicular atrophy, and his ophthalmologist found cataracts. Review of systems picks up excessive daytime sleepiness. When he first comes in to shake your hand, you notice he has trouble letting go; when he leaves, he also has difficulty letting go of the doorknob. You note weakness in the facial muscles, intrinsic hand muscles, and bilateral foot drop.Challenge: What's the diagnosis?
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Multisystem Disorder
This is myotonic dystrophy, an autosomal dominant disease. Many of the clinical findings are described here. Note that the face is long and narrow with hollow cheeks and a sagging jaw; ptosis and wasting of the sternoclaidomastoids are also common. Myotonia is the slowed relaxation after a normal muscle contraction.
Sources: UpToDate; predator.pnb.uconn.edu.
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