To describe the types, prevalence, and history of shoulder injuries in patients with facioscapulohumeral muscular dystrophy (FSHD).

FSHD is a dominantly inherited, slowly progressive muscular dystrophy with variable clinical manifestations. It usually initially presents as weakness in the face, shoulder, and upper extremities, eventually extending to the lower body. MRI studies have shown that wasting in the shoulder tends to follow a muscle-specific pattern, but to date there are no studies investigating shoulder injuries as an outcome, nor their impact on patients.

We distributed a cross-sectional anonymous web-administered survey of adult FSHD patients identified through the US National FSHD Registry and the FSHD Society registry. The survey collected FSHD history, functional status, severity scores, and detailed history of shoulder injury (defined as “any shoulder condition that caused pain, stiffness, or dysfunction in addition to that from FSHD”).

We identified 613 FSHD patients ranging from 18 to 91 years old (M=56.4, SD=14.7). Average age of symptom onset and diagnosis were 24 and 35, respectively, with an average Brooke Upper Extremity Score of 2.7 (SD=1.03).

89% of patients reported current shoulder weakness, while 34% reported a history of shoulder injury. The most-reported injuries were rotator cuff tendinitis/tendinopathy and rotator cuff tear, both with a prevalence of 9.8% – followed by subacromial bursitis (7.1%), shoulder impingement (6.0%), and dislocated shoulder (5.0%). Of the patients who reported a history of at least one shoulder injury: 42% believed that FSHD was entirely to blame, and 49% rated the impact of their injury on their life – at its worst – at 8/10 or higher.

By exploring the previously undescribed burden of shoulder injuries in the FSHD patient population, this study may improve patients’ understanding of their condition and inform clinicians’ approach to monitoring the disorder.