Does a patient with muscular dystrophy require evaluation and follow‑up by a pulmonologist?

Pulmonology Consultation in Muscular Dystrophy

Yes, patients with muscular dystrophy absolutely require pulmonology evaluation and ongoing follow-up, as respiratory complications are the leading cause of death and are largely preventable with proper pulmonary management. 1

Initial Pulmonology Evaluation

All patients with muscular dystrophy should have at least one early pulmonology visit between ages 4-6 years to establish baseline pulmonary function, provide anticipatory guidance about respiratory complications, and determine the need for intensified monitoring. 1

This early visit is critical because:

• Patients typically don't recognize respiratory muscle weakness until a viral infection causes prolonged cough or pneumonia 1
• Baseline measurements allow clinicians to predict who will require assisted coughing and ventilation 1
• FVC <1 L predicts median survival of only 3.1 years with 5-year survival of 8% 1

Frequency of Pulmonology Follow-Up

Twice-Yearly Visits Required When:

• Patient becomes wheelchair-bound, OR
• FVC falls below 80% predicted, OR
• Patient reaches age 12 years 1

Every 3-6 Months Required When:

• Patient requires mechanical insufflation-exsufflation (MI-E) devices 1
• Patient requires noninvasive ventilation 1

What Pulmonologists Monitor

At each visit, pulmonologists perform comprehensive respiratory assessment including:

Pulmonary Function Testing:

• Spirometry (FVC, FEV1, maximal mid-expiratory flow) 1
• Maximum inspiratory and expiratory pressures 1
• Peak cough flow (values <270 L/min indicate need for assisted cough techniques) 2

Gas Exchange Monitoring:

• Pulse oximetry 1
• Annual awake CO2 measurement via capnography (preferred) or venous/capillary blood gas 1
• Annual sleep studies with continuous CO2 monitoring starting when wheelchair-bound 1

Clinical Assessment:

• Sleep quality and symptoms of sleep-disordered breathing 1
• Cough effectiveness and airway clearance 2
• Signs of aspiration, gastroesophageal reflux, or asthma 1

Critical Interventions Pulmonologists Provide

Airway Clearance Management:

• Prescribe mechanical insufflation-exsufflation when peak cough flow <270 L/min or maximal expiratory pressure <60 cm H2O 2
• MI-E prevents atelectasis, reduces pneumonia incidence, and prevents hospitalization 2, 3

Ventilatory Support:

• Initiate noninvasive ventilation when oxygen saturation <95% or CO2 >45 mm Hg 3
• Never prescribe oxygen alone without ventilatory support—this worsens hypercapnia in diaphragmatic weakness 3, 4

Infection Prevention:

• Ensure annual influenza vaccination (inactivated, not live nasal spray if on corticosteroids) 3
• Ensure pneumococcal vaccination per national guidance 3

Real-World Practice Gap

Despite clear guidelines, surveillance data from 2000-2011 showed that fewer than 50% of adolescents and adults with muscular dystrophy had pulmonary function monitored twice yearly, and fewer than 32% had pulmonologist evaluations. 5 This represents a critical gap in care, as respiratory complications are preventable with proper monitoring. 1

Common Pitfalls to Avoid

Waiting for obvious respiratory distress: Muscle weakness masks typical signs of respiratory compromise; escalation should not await obvious distress. 3, 4

Using oxygen therapy alone: This masks hypoventilation without treating the underlying cause and impairs central respiratory drive. 2, 3

Delaying specialist involvement: Patients with FVC <80% have exceptionally high risk of rapid decompensation and require immediate respiratory specialist involvement for any acute illness. 3

Multidisciplinary Context

While pulmonology is essential, patients also require access to neurology, cardiology, nutrition, physical medicine, orthopedic surgery, mental health, sleep medicine, and social work specialists. 1 However, pulmonology involvement is non-negotiable given that respiratory failure is the primary cause of death. 1