Scapular Winging: Lacrosse

HISTORY: A 15 year old male lacrosse player presented with a one-year history of bilateral scapular winging R > L associated with weakness performing overhead activity particularly during lacrosse. Previous workup had included cervical MRI (unremarkable), thoracic MRI (no nerve compression but mild atrophy of bilateral rhomboid and trapezius was felt suggestive of denervation) and RUE EMG/NCS that reported normal NCS and abnormal spontaneous activity isolated to the right bicep on EMG. Symptoms persisted despite four months of physical therapy and a home exercise program. PHYSICAL EXAMINATION: - Bilateral scapular winging R > L - Right shoulder depression - Atrophy of bilateral upper trapezius and supraspinatus - Full cervical and glenohumeral ROM - 4/5 motor weakness bilateral shoulder flexion/abduction, elbow and wrist extension, hip flexion - Left facial weakness - Hyperreflexia all 4 extremities - Absent Hoffman and Babinski reflexes DIFFERENTIAL DIAGNOSIS: 1. Central Neurologic Process 2. Facioscapulohumeral Dystrophy (FSHD) 3. Brachial Neuritis TEST AND RESULTS: - Cervical MRI: unremarkable - Thoracic MRI: possible denervation of the periscapular muscles - Brain MRI W/WO: normal - EMG/NCS: 1+ abnormal spontaneous activity in right triceps (paraspinals not completed), suggestive of cervical radiculopathy. - CK 715 (elevated) - Genetic testing: 4q35 deletion consistent with FSHD Type 1 FINAL WORKING DIAGNOSIS: Facioscapulohumeral muscular dystrophy TREATMENT AND OUTCOMES: - Physical and Occupational therapy referrals - Pulmonary, cardiac, audiology, and ophthalmology follow-up was established to screen for secondary complications of FSHD - Referral to muscular dystrophy clinic for comprehensive longitudinal rehabilitation and counseling/management