Working Diagnosis:
Facioscapulohumeral muscular dystrophy (FSHD)

Treatment:
Following EMG results, a Neuromuscular specialist observed eyelid and perioral weakness, periscapular muscle atrophy, and excessive protraction, leading to a working diagnosis of FSHD. Genetic testing was recommended to confirm the diagnosis. She completed intensive physical therapy making significant improvements in range of motion, pain, and physical capability.

Outcome:
The patient deferred genetic testing until graduation due to concerns for her ability to commission as a Naval officer. The cadet continued physical therapy with a gradual return to full military and physical activity. In the spring, the patient successfully participated in The Citadel's freshman Recognition Day gauntlet, and maxed out her scores for the Navy Physical Fitness Test.

Author's Comments:
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder leading to muscle degeneration and is characterized by progressive muscle weakness, particularly in the facial, and periscapular regions though usually spares the deltoid. Symptoms most commonly manifest in the second decade of life and it is the third most common muscular dystrophy. Genetic testing is essential for accurate diagnosis, especially when symptoms overlap with common athletic injuries.

Editor's Comments:
This case is an interesting example of an acute presentation in adulthood of a genetic condition present since birth, as opposed to the more expected pattern of manifestation in childhood. While most muscular dystrophies present in childhood, the presentation of FSHD is highly variable and can manifest throughout childhood or early adulthood. It is noteworthy that with FSHD, onset of symptoms in the first few years of life is rare but patients have more severe weakness that ultimately impairs independent ambulation by the early teen years. This patient’s symptoms reflect the more common presentation of FSHD with progressive, asymmetric pain and weakness involving the shoulder girdle muscles. Later in her course she was noted to have other common characteristics including winging of the scapula and facial weakness. While this appears to be the sentinel manifestation of her condition, it would be interesting to dig deeper into her history in an attempt to elucidate further clues reflecting earlier, more subtle symptoms of FSHD such as a history of disproportionate post-exertional pain or muscle fatigue. The fact that she symptomatically manifested her condition at this particular time may represent an unmasking of underlying weakness in her shoulder girdle due to the overloading/overuse of these structures during Hell Week. Although pain would be expected after a period of muscular overloading like this, objective muscle weakness would be an unexpected finding. For many clinicians, the mild muscle weakness noted in this case (⅘ strength) could be easy to dismiss and anchor on a more common diagnosis for a young, healthy cadet under these circumstances such as muscle strain, or tendonitis/tendinopathy. Thankfully, she had an astute medical team that ordered the EMG/NCS which was the key to making the preliminary diagnosis of FSHD.

References:
1. Muscular Dystrophy Association. Facioscapulohumeral muscular dystrophy (FSH, FSHD). https://www.mda.org/disease/facioscapulohumeral-muscular-dystrophy
2. Iqbal, N., & Chu, C. (2023). Facioscapulohumeral muscular dystrophy. In StatPearls.
3. Tawil, R., & van der Maarel, S. M. (2022). Facioscapulohumeral muscular dystrophy. In M. P. Adam, H. H. Ardinger, & R. A. Pagon (Eds.), GeneReviews. University of Washington, Seattle.
4. Hamel, J., & Tawil, R. (2019). Facioscapulohumeral muscular dystrophy. Continuum (Minneapolis, Minn.), 25(6), 1650-1669.

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