Breathing with FSHD, a talk by Dr. Joshua Benditt

This recent FSHD University webinar titled “Breathing with FSHD” features Dr. Joshua Benditt, a pulmonary and critical care expert at the University of Washington. He provides a comprehensive overview aimed at helping FSHD patients understand and manage respiratory symptoms effectively.

Key points from the webinar for managing respiratory symptoms in FSHD include:

• Breathing Muscle Anatomy and Function:
  Breathing involves a group of muscles including the diaphragm (main inspiratory muscle), chest muscles, abdominal muscles (important for coughing), and glottic/throat muscles (protect airway during swallowing). Weakness in these muscles can impair breathing, cough, and airway protection, increasing risks of infections like pneumonia.

• Monitoring Respiratory Health:
  Regular pulmonary function tests are essential, particularly measuring vital capacity (the largest breath you can inhale and exhale). Testing should include both upright and lying down positions, as diaphragm weakness often causes worse breathing while supine. Measuring maximal inspiratory pressure and carbon dioxide (CO2) levels—especially during sleep—is critical to detect early respiratory insufficiency. Cough strength can be assessed through peak cough flow; values below 270 L/min signal risk, and below 160 L/min indicate inability to clear secretions.

• Sleep-Related Breathing Issues:
  Symptoms of sleep hypoventilation (inadequate breathing during sleep) include night awakenings, nightmares, headaches, daytime sleepiness, concentration difficulties, and unexplained night sweats. Because breathing muscles weaken during rapid eye movement (REM) sleep, patients may develop elevated CO2 overnight even before daytime symptoms appear.

• Non-Invasive Ventilation Support:
  Dr. Benditt stresses the value of non-invasive ventilation (NIV), such as BiPAP machines delivered via masks, to assist breathing especially at night. NIV improves oxygen and CO2 balance without the need for invasive measures like tracheostomy, which carries risks such as infections, airway damage, and social isolation. Criteria for starting NIV include vital capacity below 50% predicted, maximal inspiratory pressure below -60 cm H2O, or elevated resting CO2.

• Cough Assistance and Airway Clearance:
  Effective coughing is crucial for clearing secretions and preventing pneumonia. Techniques include manually assisted cough, using resuscitation (ambu) bags to increase breath volume before cough, and mechanical insufflator-exsufflator devices (“cough assist”). These tools help compensate for weak abdominal and chest muscles.

• Swallowing and Aspiration Risk:
  FSHD can affect bulbar/glottic muscles, impairing swallowing and airway protection. This raises aspiration risk, which can lead to lung infections. Speech and swallow evaluations, including barium swallow studies, help identify issues. Management may involve dietary modifications (thickened liquids), swallowing strategies, and in rare cases, feeding tubes.

• Maintaining Respiratory Health:
  Preventing infections is vital: vaccination against COVID-19, influenza, and pneumococcus is recommended. Avoiding contact with sick individuals, practicing hand hygiene, and monitoring for symptoms like shortness of breath or daytime fatigue are also important. Patients should always bring their ventilatory device to emergency visits, as inappropriate oxygen administration without ventilation support may worsen CO2 retention and be dangerous.

• Practical Advice on Testing and Device Use:
  FSHD patients with facial weakness that makes it difficult to achieve a tight seal with a traditional mask can substitute mouthpieces for pulmonary function testing. For NIV, nasal masks and custom-fitted oral devices can be effective, but full-face masks may be necessary if there’s mask leak due to facial muscle weakness. Patients can also safely use NIV machines during exercise to reduce breathing effort and improve endurance.

• General Outlook for FSHD Respiratory Issues:
  Respiratory involvement in FSHD is variable but more common and significant than once thought, including in ambulatory patients. Sleep disordered breathing, cough weakness, and swallowing difficulties may all be present. Early monitoring and intervention can maintain lung function, prevent complications, and improve quality of life.

This expert presentation provides FSHD patients with practical knowledge about their respiratory system, how to recognize early symptoms, the importance of regular monitoring, and treatment options focused on non-invasive ventilation and cough support. It empowers patients to advocate for optimal respiratory care and emphasizes prevention of infections as a cornerstone of maintaining lung health.