Late-onset Pompe disease and respiratory health

Last updated Feb. 29, 2024, by Susie Strachan
Fact-checked by Patricia Silva, PhD

One of the possible symptoms of living with late-onset Pompe disease (LOPD) is breathing difficulties and other respiratory challenges. Other symptoms include problems with mobility, speaking, and eating.

LOPD causes progressive muscle weakness in areas of the body including the legs, hips, arms, and shoulders. It also can affect the muscles involved with breathing.

Untreated, LOPD can lead to respiratory failure, a potentially life-threatening condition.

LOPD breathing difficulties may be treated by a combination of pulmonary rehabilitation, regular exercise, medication, and lifestyle changes.

How LOPD causes respiratory problems

When a person breathes, their diaphragm muscle works to push air in (inhale) and out (exhale) of their lungs.

Pompe disease can cause weakness in the diaphragm — which can lead to  diaphragmatic dysfunction –– and in other respiratory-related muscles in the neck and abdomen.

It can result in a feeling of shortness of breath or breathing that requires more effort. Sometimes called “air hunger,” this can happen even when resting or engaging in minimal physical activity.

Weakened respiratory muscles also may struggle to clear mucus and other particles from the airways, which may lead to a higher risk of developing respiratory infections.

Common respiratory symptoms

Common respiratory symptoms in LOPD include shortness of breath (dyspnea) and impaired or ineffective cough, along with other breathing-related challenges such as sleep apnea, daytime sleepiness, and fatigue.

An ineffective cough develops because weakened muscles are unable to clear mucus and irritants from the airways.

Some people with LOPD may experience sleep apnea, when breathing is interrupted while sleeping. This may happen if the muscles of the airways are weakened and become partially blocked, causing breathing to pause momentarily.

Sleep apnea can have consequences for overall health, including daytime sleepiness, fatigue, and an increased risk of cardiovascular problems.

Several other factors may contribute to making LOPD-related breathing worse, such as exertion during physical activities, viral infections, and anxiety.

• The demand for increased oxygen intake during physical activities may cause shortness of breath and fatigue. This can affect a person’s ability to exercise and even overall mobility.
• Respiratory infections, such as pneumonia or bronchitis, can significantly worsen breathing problems, by causing inflammation and increased mucus production.
• Psychological factors, such as the anxiety of living with LOPD, can lead to shallow and rapid breathing that may cause breathing difficulties to become more severe.

Managing respiratory challenges

Difficulty breathing brought on by a weakened diaphragm and chest muscles in LOPD can be managed with a number of treatments. These may include noninvasive ventilation, using a cough assist machine, having pulmonary rehabilitation, and taking medications for Pompe disease.

Noninvasive ventilation

A doctor may recommend one of several types of noninvasive ventilators to help with breathing, such as a bi-level positive airway pressure ventilator (BiPAP), a volume-controlled ventilator, or a continuous positive airway pressure ventilator.

A ventilator such as a BiPAP may be recommended for sleep apnea. A cough assist machine can help loosen and remove secretions from the airways.

Pulmonary rehabilitation

Pulmonary rehabilitation programs for LOPD include exercises that strengthen the respiratory muscles, increasing lung capacity and overall endurance. This can help improve a person’s mobility and ability to perform daily activities.

Pulmonary rehabilitation for someone with LOPD may include:

• breathing exercises and techniques
• exercises designed to strengthen weakened muscles
• tips for conserving energy, such as resting as needed
• self-management strategies, such as stress management.

Pulmonary rehab typically involves a multidisciplinary team, which may include respiratory therapists, physical therapists, and occupational therapists.

Exercise and physical activity

Regular physical activity can help a person with LOPD by:

• strengthening the diaphragm and other muscles to alleviate muscle weakness and help to make breathing more efficient
• increasing lung capacity by enhancing the ability to take deeper breaths
• improving overall endurance to reduce fatigue, a common symptom of LOPD
• maintaining a healthier weight — excess weight may make it harder to breathe
• supporting the heart and cardiovascular system, as exercise contributes to better blood circulation and oxygen delivery, which addresses symptoms related to cardiovascular challenges in LOPD.

Before starting an exercise routine, consult a doctor or physical therapist about the best way to exercise safely, manage activity levels, and stay at an appropriate pace. Exercise programs should be reviewed periodically and adjusted over time as needed.

Breathing exercises

A respiratory therapist or physical therapist can work with a person with LOPD on exercises designed to address problems with breathing.

Breathing exercises target and strengthen the respiratory muscles, including the diaphragm and intercostal (between the ribs) muscles. By doing these exercises regularly, people can decrease the impact of muscle weakness, making breathing more effective.

Exercise also can enhance lung capacity by encouraging deeper and more controlled breaths.

Breathlessness is a common and distressing symptom in LOPD. Breathing exercises, which often incorporate techniques like diaphragmatic breathing and controlled breathing patterns, can help reduce the sensation of breathlessness.

Breathing exercises may include:

• deep breathing involves inhaling deeply through the nose, allowing the abdomen to expand while keeping the chest relatively still, then exhaling slowly through pursed lips, while contracting the abdominal muscles
• pursed lip breathing is done by inhaling slowly through the nose for two counts, puckering the lips as if about to whistle, and exhaling through pursed lips for four counts.

Oxygen therapy

Oxygen therapy may be considered when there is evidence of hypoxemia (low levels of oxygen in the blood). Weakened respiratory muscles caused by LOPD may lead to inefficient ventilation and impaired oxygen exchange in the lungs.

The goal of oxygen therapy is to increase the oxygen levels in the bloodstream with supplemental oxygen so the body can meet its metabolic demands and maintain vital functions.

Oxygen can be delivered via a nasal cannula, mask, or portable oxygen concentrator, depending on the person’s needs.

Medication

Medications play an important role in managing LOPD symptoms, including difficulty breathing.

Treatment with enzyme replacement therapy (ERT) in LOPD has been shown to help prevent or slow the decline in how well a person breathes.

ERT involves administering a functional version of the enzyme that is dysfunctional in people with LOPD.

Respiratory medications such as bronchodilators can help open the airways and improve airflow. Inhaled corticosteroids can help reduce airway inflammation.

Respiratory infections should be treated right away to prevent a decline in respiratory function.

It’s also important to keep up with annual vaccinations for influenza, pneumonia, and COVID-19.

Lifestyle changes and coping strategies

Lifestyle adjustments may help with breathing. This can include using assistive devices, making changes to the way food is prepared, increasing physical activity, joining support groups, and dealing with mental health issues.

Assistive equipment for mobility — such as a wheelchair or an electric scooter — can help conserve energy, allowing someone with LOPD to navigate their surroundings without overexertion. It is particularly helpful when doing activities that may otherwise strain the respiratory system, such as walking up stairs.

Physical activity is another way to strengthen the respiratory system and reduce fatigue. To increase enjoyment, select an activity of personal interest, join a group, or engage with friends to add a social and supportive element. Schedule the activity during a time of the day when you’re usually the most energetic.

Many people with LOPD have trouble chewing and swallowing. This is caused by the weakening of muscles in the mouth and neck and can lead to inadequate nutrition. There’s also the risk of aspirating food into the lungs.

Chopping solid food into smaller pieces or mashing and moistening it can make swallowing easier and keep food from being inhaled into the lungs. Adding cornstarch, rice cereal, or thickening powders to liquids also may help.

Living with a chronic condition such as LOPD can have an emotional impact, including causing depression and anxiety. It can interfere with your daily routine and affect the overall quality of life.

Coping strategies can help with mental health issues. These can include:

• meditation
• mindfulness exercises
• counseling or therapy
• writing in a journal
• petting a support animal.

People in LOPD support groups understand the challenges of living with LOPD. They can be a reliable source of emotional support.

An in-person or online support group is a place for people to express their feelings as well as share coping strategies for respiratory challenges and other LOPD symptoms.

Pompe Disease News offers information on the disease, including diagnosis, causes, and treatment, along with first-person perspectives on living with LOPD.

Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.