Treatment Team for Late-onset Pompe Disease

Treatment Team for Late-onset Pompe Disease
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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.

Muscle weakness

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.

Breathing difficulties

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.

Mobility impairments

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).

Feeding issues

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.

Heart problems

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.

Nutritional requirements

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.

Mental problems

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 issues

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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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.

Brian holds a Ph.D. in Biomedical Engineering from Case Western Reserve University and a Bachelors of Science in Biomedical Engineering from Georgia Institute of Technology. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Brian holds a Ph.D. in Biomedical Engineering from Case Western Reserve University and a Bachelors of Science in Biomedical Engineering from Georgia Institute of Technology. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
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