Case Report: Atypical Focal Axial Presentation of Facioscapulohumeral Muscular Dystrophy Type 1.

Although facioscapulohumeral muscular dystrophy (FSHD) is known and functionally named for the typical findings of progressive weakness of the facial, scapular, and upper arm muscles, there is a growing body of evidence describing atypical presentations, particularly involving the midline musculature. We report 2 notable such cases of atypical FSHD presentation: (1) a 36-year-old postpartum woman with sparing of the usually involved muscles, but who was found to have significant atrophy of the lower abdominal muscles, pectus excavatum, and a positive Beevor sign and (2) a 65-year-old man with a history of spine surgery, with marked lumbar paraspinal atrophy, left scapular winging, and lordosis. The patients in both cases were genetically tested and found to have 4q35 deletion consistent with FSHD1. These cases highlight the importance of recognizing atypical presentations of FSHD.