Treatment Team for Late-onset Pompe Disease
Late-onset Pompe disease (LOPD) can affect a number of different organs and systems in the body. If you have the disorder, you will need to see a multidisciplinary treatment team to ensure you receive the best possible care.
Read on for more information about some of the complications that LOPD can cause, along with how specialists can help diagnose and treat these symptoms.
The main symptom of patients with LOPD is muscle weakness, which primarily affects muscles closer to the body (proximal) rather than muscles of the limbs (distal). To help monitor and diagnose any muscle weaknesses, you will need a neurologist or neuromuscular specialist on your multidisciplinary treatment team.
Another major symptom of LOPD is difficulty breathing. The diaphragm and other muscles related to breathing become weak and make it difficult to breathe. Some patients experience sleep-disordered breathing such as apnea. Some may also require breathing assistance through a ventilator. A pulmonologist can help diagnose, monitor, and treat breathing problems.
When the muscles of the body become weak, you may lose some of your mobility and your ability to maintain your posture. An orthopedist can help diagnose and treat disorders of the joints and bones that are common in LOPD as the disease progresses such as scoliosis (a sideways curvature of the spine), contractures (a shortening of muscles and tendons), and osteoporosis (a decrease in the density of the bones).
As LOPD progresses, you may have difficulty with swallowing. When swallowing becomes too hard, you may need a feeding tube. A gastroenterologist can place this to ensure that you are receiving sufficient nutrition and are not at risk of accidentally breathing in food or liquid.
While children with infantile-onset Pompe disease often experience severe disease of the heart muscle, this problem appears to be rare in LOPD patients. Heart arrhythmias (irregular heartbeats) may still be a concern, though, and you should consult with a cardiologist for monitoring and possible treatments.
Everyday life complications
A number of different therapists can help you with various aspects of your daily life. A physical therapist can help you with stretches and exercises to try and maintain muscle strength and flexibility. An occupational therapist can work with you on strategies to perform activities of daily life. You may be able to improve the strength of your breathing with the help of a respiratory therapist. Finally, a speech therapist can help you with any difficulties speaking due to weak muscles of the mouth, throat, and diaphragm.
There is some evidence that a high-protein, low-carbohydrate diet may help reduce some symptoms of LOPD. A dietician can help you plan out meals to ensure you are following recommendations and getting adequate nutrition.
A chronic, progressive illness such as LOPD can cause you and your family a great deal of stress and anxiety. You may also feel depressed and overwhelmed from time to time. Psychologists can help you learn strategies to deal with these emotions. In more serious cases, psychiatrists are able to prescribe medications.
Genetic counseling can help you better understand LOPD, including its causes and implications. The counselor can also explain the odds of passing on the disease if you are planning to have children.
Last updated: Jan. 12, 2021
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