Late-onset Pompe disease (LOPD) can impact various systems within the body. Those with the disorder should consult a multidisciplinary treatment team for optimal care.
Continue reading for details on the potential complications of LOPD and the ways in which specialists can assist in diagnosing and managing these symptoms.
Muscle weakness
The primary symptom of Late-Onset Pompe Disease (LOPD) is muscle weakness, predominantly impacting the proximal muscles closer to the body’s core rather than the distal limb muscles. For monitoring and diagnosing muscle weakness, the inclusion of a neurologist or neuromuscular specialist in your multidisciplinary care team is essential.
Breathing difficulties
One of the main symptoms of LOPD is having trouble breathing. The muscles involved in breathing, like the diaphragm, become weak, making it hard to take in air. Some people with LOPD might have sleep problems like apnea, and some might need help breathing with a ventilator. A pulmonologist can figure out what’s going on with your breathing and help you manage it.
Mobility impairments
When your muscles start to weaken, it can affect your mobility and posture. An orthopaedist can diagnose and treat common joint and bone disorders that occur as LOPD progresses, like scoliosis (a sideways curve in the spine), contractures (muscle and tendon shortening), and osteoporosis (bone density decrease).
Feeding issues
As LOPD progresses, you might start having trouble swallowing. If it gets really tough, you might need a feeding tube. A gastroenterologist can put one in to make sure you’re getting enough nutrition and not in danger of inhaling food or liquid by accident.
Heart problems
Children with infantile-onset Pompe disease typically suffer from severe heart muscle issues, but this is less common in LOPD patients. However, heart arrhythmias can still be a concern. It’s important to see a cardiologist for monitoring and potential treatments.
Everyday life complications
There are several types of therapists who can assist you with different aspects of your daily life. A physical therapist can help you with stretches and exercises to maintain muscle strength and flexibility. An occupational therapist can work with you on strategies to help you perform daily activities. If you need help improving your breathing, a respiratory therapist can assist you. Lastly, a speech therapist can help you with any speech difficulties caused by weak muscles in your mouth, throat, and diaphragm.
Nutritional requirements
There is evidence to suggest that following a high-protein, low-carb diet could potentially alleviate some symptoms of LOPD. Consulting with a dietician can be beneficial in creating meal plans that align with dietary recommendations and provide proper nutrition.
An Eating Well recipe booked is available free of charge on this website.
Mental problems
Dealing with a chronic, progressive illness like LOPD can be really tough on you and your family. It’s totally normal to feel stressed, anxious, and even depressed at times. But don’t worry, psychologists can give you some great strategies to help you cope with these emotions. And if things get really tough, psychiatrists can even prescribe medications to help you out. Just remember, you’re not alone in this and there are professionals out there who can support you through it all.
A free mental health support booklet is available free of charge to download on this website
Genetic issues
Genetic counselling is a great way to learn more about LOPD, including what causes it and what it could mean for you. The counsellor can also help you understand the chances of passing on the disease if you’re thinking about starting a family.
Pompe Disease 