Breathing weakness is an important topic for many people and families living with titinopathies. Changes in the TTN gene can cause a broad spectrum of muscle and heart disorders, and for some individuals, this can include weakness of the muscles used for breathing, coughing, and clearing secretions.
Team Titin recently hosted the webinar “Overview of Neuromuscular Breathing Weakness” in collaboration with Breathe with MD, Inc. Our featured speaker was Andrea Klein, Founder and President of Breathe with MD, who shared practical, clear, and empowering information about how neuromuscular breathing weakness is evaluated and managed.
You can watch the full webinar recording here:
Overview of Neuromuscular Breathing Weakness:
https://youtu.be/V3e_Bs9AYH4?si=ZCafQinvKYHRjXSb
Why Breathing Weakness Matters in Titinopathy
The TTN gene provides instructions for titin, a critical protein in skeletal and heart muscle. Because titinopathies can affect muscle strength and function, some people may also experience weakness in the muscles that support breathing.
In the webinar introduction, Sarah Foye, President of Team Titin, highlighted that breathing difficulty is common in some forms of titinopathy, especially congenital titinopathy. Prior research has shown respiratory insufficiency, use of nighttime or full-time ventilation, frequent respiratory infections, and paradoxical breathing patterns in some affected individuals. The webinar also reviewed early findings from a pediatric TTN-related congenital myopathy natural history study suggesting that respiratory involvement may worsen over time in some children, reinforcing the importance of regular monitoring.
Breathing symptoms may also overlap with heart symptoms. In TTN-related heart conditions, shortness of breath or difficulty breathing while lying flat can also be signs of cardiomyopathy or heart failure. This makes it especially important for families to discuss breathing changes with a medical team familiar with neuromuscular disease and/or inherited heart conditions.
Watch this short clip: Breathing Challenges in Titinopathy
https://youtu.be/itOCICPnaZM
“It’s Not Bad Lungs — It’s Weak Breathing Muscles”
One of Andrea’s key messages was that many people say, “my lungs are weak” or “I have bad lungs,” but in neuromuscular disease, the main problem is often not the lungs themselves. Instead, the muscles that move air in and out of the lungs may be weak.
These muscles include the diaphragm, the intercostal muscles between the ribs, abdominal muscles, and sometimes muscles of the upper airway, mouth, and throat. When these muscles are weak, a person may have trouble ventilating — meaning moving air in and out effectively.
This can affect oxygen levels, carbon dioxide levels, sleep quality, cough strength, infection risk, and overall quality of life.
Watch this short clip: What Is Neuromuscular Breathing Weakness?
https://youtu.be/LDKZIeM3-FE
Symptoms Can Be Subtle
Andrea emphasized that breathing muscle weakness often begins during sleep and can “sneak up” gradually, especially in slowly progressive neuromuscular conditions.
Possible symptoms may include:
- Restless sleep or frequent waking
- Morning headaches that improve after sitting up
- Daytime sleepiness or fatigue
- Difficulty concentrating
- Irritability
- Shortness of breath or anxiousness when lying flat
- Needing more sleep to feel rested
- Frequent respiratory infections
- Weak cough or difficulty clearing mucus
These symptoms can be easy to dismiss or attribute to something else, which is why routine evaluation is so important.
What Should a Breathing Evaluation Include?
A major focus of the webinar was medical self-advocacy. Andrea encouraged individuals and families to work with clinicians who understand neuromuscular breathing weakness whenever possible.
Important evaluation tools may include:
- Pulmonary function testing while sitting and lying down
- Forced vital capacity, often called FVC
- Measures of breathing muscle strength, such as MIP, MEP, or SNIP
- Sleep evaluation or overnight monitoring
- Carbon dioxide monitoring, not just oxygen saturation
One especially important point: a person can have a normal oxygen saturation number while still retaining too much carbon dioxide. This is why CO₂ monitoring can be so important in neuromuscular disease.
Watch this short clip: What Should Be Included in Respiratory Evaluation?
https://youtu.be/MSpZz7JnQxw
Watch this short clip: Sleep Studies: Why CO₂ Monitoring Matters
https://youtu.be/5o7hTZrojEE
Treatment and Support Options
Andrea explained that respiratory management in neuromuscular disease generally includes three major areas: ventilatory support, cough support, and lung volume recruitment.
1. Ventilatory Support
Non-invasive ventilation, often called NIV, BiPAP, BPAP, or bilevel ventilation, can help move air in and out of the lungs and rest the breathing muscles, especially during sleep.
Andrea also explained why CPAP is usually not the right treatment for neuromuscular breathing weakness. CPAP helps keep airways open, but it does not provide the same support for moving air in and out of the lungs when the main issue is muscle weakness.
Watch this short clip: Why Is CPAP Wrong?
https://youtu.be/x0Pgl5GbS3Q
2. Cough Support and Airway Clearance
A weak cough can make it harder to clear mucus, especially during respiratory infections. This can increase the risk of complications such as pneumonia.
Andrea discussed tools such as:
- Manually assisted cough
- Mechanical cough assist devices
- Suction machines
- Secretion clearance plans
She emphasized that cough support should be discussed proactively, before a respiratory infection becomes an emergency.
Watch this short clip: Cough Assist and Airway Clearance
https://youtu.be/_GrU8MJpKB0
3. Lung Volume Recruitment
Lung volume recruitment, sometimes called breath stacking, can help stretch the lungs and breathing muscles. It may also help some people take a deeper breath before coughing.
A Special Caution About Supplemental Oxygen
One of the most important safety messages from the webinar was about supplemental oxygen.
For people with neuromuscular breathing weakness, oxygen given without adequate ventilation support can sometimes be risky. The issue is that oxygen may improve the oxygen number while carbon dioxide continues to build up. In some cases, this can become dangerous.
This does not mean oxygen is never used. Rather, oxygen should be used carefully and with appropriate monitoring, especially carbon dioxide monitoring, and ideally under the guidance of clinicians familiar with neuromuscular respiratory care.
Watch this short clip: Oxygen Caution in Neuromuscular Disease
https://youtu.be/0BC_l5CsJn0
The Power of Medical Self-Advocacy
Rare disease families often become experts in their own conditions. Andrea encouraged families to bring reliable resources, peer-reviewed literature, and practical tools to medical appointments.
This is especially important because not every pulmonologist, sleep lab, emergency department, or hospital team is familiar with the needs of people with neuromuscular breathing weakness.
Breathe with MD offers helpful resources for families and clinicians, including information on evaluation, cough support, oxygen caution, clinical considerations, and its Breathing Muscle Weakness 101 course.
The course opened for enrollment on April 25, 2026 you can sign up here.
Learn more about Breathe with MD:
breathewithmd.org
Key Takeaway for the Titin Community
Breathing weakness in titinopathy is important to recognize, monitor, and treat. Symptoms can be subtle, and problems may first appear during sleep. Heart health may also impact breathing and should be considered as part of a complete medical workup.
Regular respiratory evaluation, appropriate testing, attention to carbon dioxide levels, cough support, and timely use of ventilatory support can help improve safety, comfort, and quality of life.
Team Titin is grateful to Andrea Klein and Breathe with MD for sharing this important information with our community. This webinar supports Team Titin’s mission pillars of Care, Connection, Advocacy, and Research by helping families better understand what to watch for, what to ask about, and how to advocate for appropriate respiratory care.
Watch the full webinar recording:
https://youtu.be/V3e_Bs9AYH4?si=ZCafQinvKYHRjXSb
Short Video Clips from the Webinar
| Topic | Link |
| Breathing Challenges in Titinopathy | https://youtu.be/itOCICPnaZM |
| What Is Neuromuscular Breathing Weakness? | https://youtu.be/LDKZIeM3-FE |
| What Should Be Included in Respiratory Evaluation? | https://youtu.be/MSpZz7JnQxw |
| Sleep Studies: Why CO₂ Monitoring Matters | https://youtu.be/5o7hTZrojEE |
| Why Is CPAP Wrong? | https://youtu.be/x0Pgl5GbS3Q |
| Cough Assist and Airway Clearance | https://youtu.be/_GrU8MJpKB0 |
| Oxygen Caution in Neuromuscular Disease | https://youtu.be/0BC_l5CsJn0 |