Key result
Genetic testing confirms FSHD1 in two patients presenting with atypical focal axial muscle atrophy.
Why the study?
While facioscapulohumeral muscular dystrophy typically involves progressive weakness of facial, scapular, and upper arm muscles, evidence is growing for atypical presentations involving midline musculature.
Case Report (n=2)
This case report highlights the importance of recognizing atypical presentations of FSHD1, particularly those involving midline musculature.
Atypical axial atrophy warrants FSHD1 consideration in differentials; extends phenotype yet leaves open need for validation.
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.
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Zweber et al. (2026) conducted a case report in Facioscapulohumeral Muscular Dystrophy Type 1 (n=2). Two patients presenting with atypical focal axial muscle atrophy were genetically confirmed to have facioscapulohumeral muscular dystrophy type 1, highlighting the importance of recognizing atypical presentations.
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