Working Diagnosis:
Facioscapulohumeral muscular dystrophy (FSHD) Type 1

Treatment:
The athlete underwent baseline electrocardiogram, pulmonary function tests (PFTs), and audiology and vision screens. PFTs showed a mild restrictive lung pattern. The rest of the tests were normal. He was referred to the multidisciplinary muscular dystrophy clinic, which includes neurology, physiatry, and pulmonology. He was advised to continue PT and was prescribed lidocaine ointment for his periscapular pain.

Outcome:
He was encouraged to participate in sports as tolerated but was advised to avoid strenuous muscle loading. He was able to continue playing both football and golf without significant difficulty and was scheduled for annual follow up in the multidisciplinary clinic.

Author's Comments:
This case highlights the importance of keeping non-primary musculoskeletal conditions (which sometimes end up being the zebras) on your differential and keeping your differential broad when taking a history and doing a physical exam. This case emphasizes the importance of working as a team and utilizing other specialties within the health care system to establish a diagnosis and provide the best care for the patient.

Editor's Comments:
Fascioscapulohumeral dystrophy is one of the most common types of muscular dystrophy and can be autosomal dominant or sporadic. It typically presents with weakness of the facial muscles, the scapular stabilizers, and/or foot dorsiflexors. Although severity is variable, weakness is usually progressive. Diagnosis is established by finding a pathogenic contraction of D4Z4 repeat array in the region of chromosome 4q35. Evaluation includes defining extent of disease like our patient above by performing a good musculoskeletal exam to look for PT and OT needs, PFTs, hearing and visual screens. There are no current pharmacologic therapies directed at genetic treatments at this time and goals of therapy are directed at controlling pain and promoting function. When evaluating patients with bilateral neurologic symptoms like this patient, keep central and systemic issues at the top of your differential.

References:
What is FSHD? FSHD Society. Accessed on August 15, 2023 at https://www.fshdsociety.org/what-is-fshd/

Fascioscapulohumeral Muscular Dystrophy. NORD. Accessed on August 15, 2023 at https://rarediseases.org/rare-diseases/facioscapulohumeral-muscular-dystrophy

Preston MK, Tawil R, Wang LH. Facioscapulohumeral Muscular Dystrophy. 1999 Mar 8 [Updated 2020 Feb 6]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023

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