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Final Program

622 - Bilateral Winged Scapula due to Facioscapulohumeral Muscular Dystrophy: A Case Report

Friday, February 28, 2025
5:00 PM - 6:30 PM MST

    Presenting Author(s)

  • SA

    Swati Anand, MD

    PGY 3, Physical medicine and Rehabilitation
    SUNY Downstate Health Science University
    Massapequa park, New York, United States

    • Co-Author(s)

  • EM

    Edbert Morales, MD

    Attending Physician
    St. John Episcopal Hospital
    Far Rockaway, New York, United States

  • Sanjeev Agarwal, MD

    Program Director
    SUNY Downstate Health Science University
    Brooklyn, New York, United States

Case Diagnosis: Facioscapulohumeral Muscular Dystrophy

Case Description: A 23 year old male with no significant medical history was referred to the clinic for bilateral shoulder weakness and mild pain. His symptoms started before 15 years after a fall down the stairs. He noticed difficulty in raising shoulder, more on right side while playing baseball with inability to perform overhead movement. On physical examination, the patient had prominent lateral winging of scapula bilaterally, mild facial weakness involving orbicularis oris and oculi, and decreased active range of motion (ROM) and bilateral proximal muscle weakness. Magnetic resonance imaging of Chest showed bilateral scapular winging, aplastic serratus anterior bilaterally, absence of right pectoralis major muscle, asymmetry of thoracic cage. Electromyography (EMG) showed moderately increased spontaneous activity of left serratus anterior, mildly increased spontaneous activity of right serratus anterior, mildly increased spontaneous activity of left trapezius and reduced recruitment, and reduced recruitment of right trapezius.

Discussions: Patient’s genetic testing was consistent with Facioscapulohumeral dystrophy (FSHD1).  FSHD is the third most common type of muscular dystrophy. It is a complex genetic disorder characterized in most cases by slowly progressive muscle weakness involving

the facial, scapular, upper arm, lower leg, and hip girdle muscles, usually with asymmetric involvement. There are two genetically distinct forms of FSHD, FSHD1, and FSHD2, which are caused by the inappropriate expression of double homeobox protein 4 gene (DUX4). The inheritance pattern of FSHD1 is autosomal dominant. Other manifestations of FSHD may include pain, retinal vasculopathy, hearing loss, cardiac arrhythmia, cognitive impairment, and epilepsy.

 

Conclusions:

Patients with FSHD and functional limitations benefit from a physical therapy and rehabilitation consultation with assessment of posture, gait, and the need for exercise, stretching, assistive devices, and orthopedic interventions. Our patient was started on occupational therapy and physical therapy to increase ROM and muscle strength with electric stimulation which he tolerated well.