DALLAS—A “one size fits all” approach to neuromuscular disease treatment is often ineffective and can sometimes worsen a patient’s condition, Dr. Bethany Lussier said at the 2025 Muscular Dystrophy Association Clinical & Scientific Conference.
“Not all neuromuscular diseases are the same; but we treat it the same,” said Dr. Lussier, highlighting multiple examples of how a uniform approach can be damaging.
One standard practice is monitoring forced vital capacity (FVC)—a lung function test measuring the amount of air exhaled after a deep breath—when it approaches 1 L, as this can indicate incomplete lung deflation during breathing. However, some patients, such as those with early-onset spinal muscular atrophy (SMA), may never reach 1 L due to differences in disease progression, emphasizing the need for individualized treatment.
“Even with the same disease state, the phenotype is very different,” said Dr. Lussier, who is an associate professor of internal medicine at UT Southwestern Medical Center here.
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Another example of the need for a personalized approach involves patients unable to increase their tidal volume, the amount of air moved in and out of the lungs per breath. Normally, when tidal volume cannot increase, the body compensates by raising the respiratory rate. Pulmonologists may then attempt to match the increased respiratory rate by adjusting ventilation settings to increase tidal volume, but this can lead to hypoventilation and carbon dioxide (CO2) buildup.
Elevated CO2 levels can contribute to several complications, including organ dysfunction, severe pulmonary and cardiovascular disease, altered immune function and impaired muscle regeneration.
However, interventions often occur too late, when CO2 levels are already dangerously high. Dr. Lussier stressed the importance of proactive strategies to prevent hypercapnia (excess CO2 in the blood), which can lead to respiratory failure and increase the risk of pneumonia. Additionally, increasing ventilation pressure to counter CO2 buildup can itself contribute to hypercapnia.
Other common treatment complications include high ventilation pressure leading to aerophagia (swallowing excessive air, which accumulates in the stomach rather than the lungs) and pain medications causing gastroparesis (delayed or halted stomach emptying).
Case study shows importance of individualized care
Dr. Lussier presented a case demonstrating the benefits of a comprehensive treatment approach.
A 25-year-old man with Duchenne muscular dystrophy presented with mild shortness of breath, bloating/swelling of the abdomen, and difficulty getting up in the morning. Recognizing early signs of hypercapnia, Dr. Lussier also considered additional factors affecting his condition, including postural instability, abdominal wall immobility, and obesity, which contributed to uncompensated gastric distension (enlargement of the stomach due to gas or fluid buildup).
Instead of focusing solely on ventilation pressure adjustments, his treatment plan was modified to address multiple aspects of his health:
- Cardiac medications were adjusted.
- Opioids were discontinued.
- A gastrostomy tube, or G-tube, was placed.
- A combination of nightly positive and morning negative pressure systems was introduced to manage severe gastroparesis.
This holistic approach led to improved outcomes, underscoring the need for individualized care in neuromuscular disease treatment.
