1622 - A Rare Diagnosis of Facioscapulohumeral Muscular Dystrophy in a Collegiate Baseball Player Presenting with Chronic Periscapular Pain

Facioscapulohumeral muscular dystrophy (FSHD), a hereditary myopathy, was diagnosed in a collegiate baseball player who presented with chronic periscapular pain.

Case Description:

A 21-year-old male collegiate baseball player presented with chronic periscapular pain. On physical examination, he had bilateral scapular winging and reduced muscle bulk in the trapezius muscles. Shoulder abduction was 4/5 strength, otherwise 5/5 in the bilateral upper extremities. Sensation was intact to light touch in the bilateral upper extremities and cranial nerves 2-12 were grossly intact. He was referred for electrodiagnostic testing (EMG), which revealed findings suggestive of a myopathy, particularly FSHD. The patient was referred to neuromuscular medicine for further evaluation, where the diagnosis of FSHD was confirmed through genetic testing.

Discussions: FSHD is a hereditary myopathy typically diagnosed in the teenage years, often presenting with facial and scapular girdle weakness. Its prevalence is approximately 1 in 10,000, and it is rare in individuals performing at high levels of athletic competition. This case is unique due to the late presentation and the patient’s high level of athletic performance. Most patients with FSHD exhibit symptoms earlier in life and experience progressive functional decline. The diagnosis in this case underscores the variability in clinical presentation of FSHD and highlights the importance of considering neuromuscular etiologies in patients presenting with chronic periscapular pain, even in high level athletes

Conclusions: FSHD should remain on the differential for chronic periscapular pain, even in high-functioning athletes. This case contributes to the growing recognition of atypical and late-onset presentations of FSHD and emphasizes the role of EMG and genetic testing in diagnosis.