Working Diagnosis:
Facioscapulohumeral dystrophy 1 (FSHD1)

Treatment:
Referral was placed to Orthopedics and Rehabilitation for strengthening exercises given his desire to maintain an active lifestyle. He continues to follow up in clinic with us, maintaining a positive outlook and motivation to use exercise (swimming) to manage his diabetes.

Outcome:
Our patient was counseled that FSHD is a slowly progressive neuromuscular disorder causing his worsening symptoms. The autosomal dominant pattern of inheritance of FSHD was discussed such that each future child has a 50% risk of inheriting the causal alleles. He was informed of the possibility of eventually becoming wheelchair bound. The couple underwent genetic counseling in the context of family planning and relatives were encouraged to pursue presymptomatic genetic testing.

Author's Comments:
Our patient is a 35 year-old diabetic male with a rare alleleic combination believed to beget a late onset, relatively mild clinical form of FSHD. FSHD is the third most common hereditary disease and a highly variable disorder that classically presents with asymmetric muscular weakness in the second decade (90% of patients have symptoms by age 20), although can manifest at any point from infancy to adult life. Typical phenotypic features include atrophy and resultant weakness of facial musculature with bulbar sparing, scapular stabilizers, and proximal shoulder girdle muscles as befittingly encompassed in the name facio-scapulo-humeral dystrophy. Ultimately, we believe his case is worth reviewing as it is important to maintain a high suspicion of this diagnosis despite an atypical clinical presentation of classic features.

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