Working Diagnosis:
Fascioscapulohumeral dystrophy, Type 1

Treatment:
The patient was referred for a course of physical therapy. He continued to participate in weightlighting. He noted an increase in right shoulder pain, but also admitted to significantly increasing the weight he was lifting during this time. It was recommended that he avoid heavy lifting until his next follow up appointment.

Outcome:
The patient established care with Genetics, Neurology, and the Neuromuscular Disorders clinic. It was recommended that he have a baseline EKG completed and for the family to undergo genetic testing and counseling. The patient completed his course of physical therapy without significant improvement. He otherwise notes that his motor skills have remained stable. It was also discussed that the patient could consider a scapular fixation procedure in the future.

Author's Comments:
FSHD is a type of muscular dystrophy that is characterized by progressive weakness of the muscles of the face, shoulders, and arms. This weakness is usually asymmetric and involvement may later progress to affect the trunk, hip girdle muscles, and lower extremities. Other manifestations can include retinal vasculopathy, sensorineural hearing loss, and less commonly respiratory or cardiac involvement. The disease will typically present in adolescence or young adulthood and symptom severity can vary. There is no cure for FSHD. Management is supportive, though surgical fixation of the scapula can be considered in some cases.

Editor's Comments:
Facioscapulohumeral Muscular Dystrophy is the third most common muscular dystrophy with an approximate incidence of 1:20,0000. Facioscapulohumeral Muscular Dystrophy Type 1 is an autosomal dominant contraction of the D4Z4 repeat on chromosome 4q35 although it is believed that up to 30% of cases are sporadic. Typically, this presents before the second decade of life as progressive muscle weakness of the face, upper arms and shoulder girdle. Clinical suspicion based on physical exam can be confirmed through genetic testing which is 95% sensitive and highly specific. Management focuses on functional optimization through physical and occupational therapy as with need for audiology, retinal and pulmonary function monitoring. If scapular winging with persistent pain were to occur despite conservative management, operative scapulothoracic fusion may be considered. These patients should be connected to a genetic counsellor given autosomal dominant inheritance pattern with variable penetrance.

References:
Preston MK, Wang LH. Facioscapulohumeral Muscular Dystrophy. 1999 Mar 8 [Updated 2025 Jul 10]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026.

Statland J, Tawil R. Facioscapulohumeral muscular dystrophy. Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15. PMID: 25037087; PMCID: PMC4239655.

Felice KJ , Whitaker CH . Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder. Muscle & Nerve. 2023; 68(5): 758-762.

Cite
Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M; Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Jul 28;85(4):357-64. doi: 10.1212/WNL.0000000000001783. PMID: 26215877; PMCID: PMC4520817.

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