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Treatment for Pompe Disease

by Gauri Kolhe

In the world everyday various types of diseases, medicines, and treatments have been discovered. Blessing of science doctors now has introduced various types of medicines for rare diseases even though life threatening disease cancer can be curable.

We know prevention is better than cure therefore whenever any uncanny situation can happen immediately we should contact our physician. We should remember before going to the treatment that we have to know about the nature of the disease, treatment procedure of the disease and the life span of the disease from the doctor. 

Pompe disease is a rare disease. At the time the body cannot prepare a protein which can break down from the complex sugar as energy and those sugar stores and damages the muscles and organs, due to this reason pompe disease has occurred. 

Due to the pompe disease muscles get weak, maybe it can create breathing problems. This disease is maximum affected to the Lever, heart, muscles and other gastro-intestinal organs.

Due to this disease the complex sugar has not been converted into the energy that’s why it is called as a glycogen storage disease type 2. It is also hampered to the protein function so it is called an acid Alpha glucosidase or GAA.

Causes of this disease

We know the primary cause of this disease is glycogen cannot be converted into energy. But it has many other causes also, it is known as lysosomal storage disorders also. Lysosome is a section inside of cells where the other substance can be reformed. If the substances cannot be regenerated due to the problem of digestive enzymes at this time pompe disease can occur. 

It can be transformed from the parents side also means it is a kind of genetic disorder.

Stored glycogen into the muscles has affected the myofibrils (tiny fibers of muscles) and causes muscle rupture as well as tissue.

Types of pompe disease

Affected by this disease the affected people can be distinguished between the three groups, one is caused due to the genetic disorder at the time of birth, after birth within the age of 1 this disease can be seen and it is known as non classic infantile disease. Other hand, it can be seen at any age group like at the time of teen to adulthood.

Symptoms of the disease

Symptoms of this disease can vary for different types of people. If the disease has been seen for a baby from the birth time to the age of one, the symptoms may like-

Children cannot consume as sufficient amount of food.

They cannot be proper controlled in head and neck.

Most common symptom is severe lung infection also breathing problem.

Liver can also enlarge and the tongue also, so it is affected in time of consumption of food.

Cardiac muscle can thicken and major cardiac problems are seen.

Poor muscle, weight loss, abnormal behavior, hearing problems, nausea, tiredness and other various types of symptoms have been seen.

 Complications of this disease

Pompe disease is rare but it is a life threatening disease for children if the treatment will not start as early as possible. Maximum people are affected with breathing problems, heart problems, and vision and hearing problems with muscle weakness due to the disease. Sometimes people can not walk freely so they use a wheelchair and oxygen.

Other physicians who can manage pompe diseases they are- Cardiologist, pulmonologist, gastroenterologists, nutritionists, physical therapists, occupational therapists and speech therapists.

Treatment of pompe disease

Pompe disease can not be cured fully but it can be controlled if the affected people or babies will start their treatment as early as possible. According to FDA 2006 we get to know the main key of this treatment procedure is ERT or enzyme replacement therapy. It is an expensive treatment also. Enzyme replacement therapy has consisted of an artificial hormone called alglucosidase alfa.

This enzyme has been infused to the body. This enzyme helps to resist pompe disease but if you have been affected with this disease then the treatment will start and it cannot work properly. This process is known as enzyme replacement therapy. The most important thing is this treatment procedure is not suitable for the new born babies.

Due to the infusion of enzymes the look of children has improved better than other treatments. The treatment of ERT actually helps to resist pompe disease in both adults and children at the beginning of this disease. Enzyme replacement therapy cannot save lives but it can manage the disease properly with the help of proper nutrition, physical therapy and other special care. This is one way to treat pompe disease.

Medications of the treatment of pompe disease

If babies are having competitions then physicians will recommend testing to find the cross reactive immunologic material or the status of CRIM. Amazing part is that if CRIM will be negative then the babies will be at high risk of antibody reaction to enzyme replacement therapy means the antibody will resist the enzyme and the therapy will not work.  

At this time physicians will recommend a treatment of pompe disease called ITI for immune tolerance induction. This treatment procedure has included some drugs and it is usually given at the starting time of ERT treatment. 



IV of immunoglobulin

Another therapy of this disease is occupational and physical 

Due to the adverse effect of the competition most adults or the children may suffer from psychological imbalance. Occupational therapists help those patients to get rid of that psychological imbalance and teach them the various types of skills to do the daily self care and tasks. 

Muscle weakness is the common symptom of a disease. The physical therapist helps the patients to strengthen their muscles and also helps to get rid of muscle weakness. 

Speech therapy

Mumbai disease has adverse effects on the muscle as well as it has also adverse effects on the face muscle and tongue which can affect your speech problem. Speech therapists assist the patient or Child to determine the speech and the language skills.

Nutritional therapy

Proper nutrition of the body helps to make a strong immune system for physical health.

Due to this disease it can damage the muscles, face muscles and also make it difficult to feed and swallow properly. A nutritionist gives the proper diet and recommends various ways of taking foods. The proper nutritional and diet charts may benefit their health.

Treatments for other health problems 

Adverse effects of the pompe disease are enormous. It can affect the physical, cardiac, neuro, and also affect the skeletal system. It also has adverse effects on the respiratory system.

Therefore cardiologists regularly check up on various types of heart problems due to this disease and recommend the medicines.

Same as pulmonologist also regularly visits the patients who are suffering breathing problems and they also recommend various techniques to solve the problem. 

Physicians also regularly check the patients’ Motor skills, hearing and other functional problems.

At last this is the most important of self care. Self care is very important to get rid of any diseases. Before that we have already discussed whether prevention is better than cure so whenever any symptoms will be raised immediately contact physicians. 

Maintaining a quality of lifestyle like taking proper amounts of balanced meals, regular work yoga and exercise can help to physically fit and help to come out from disease. Daily practice of yoga and meditation helps to keep our body fit and fine as well as it boosts our cognitive portion.

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