Pompe Diseases: Symptoms, Causes, Diagnosis & Treatment

Pompe disease is a genetic disease that occurs when there is not enough or not any of the enzyme called alpha-glucosidase. An enzyme is a protein that causes a specific chemical change within the body. Alpha-glucosidase breaks down complex sugars in the body. In people with Pompe disease, sugars build up in the muscles, causing the muscles to break down.

There are three types of Pompe disease. Classic infantile-onset appears within a few months of birth. Non-classic infantile-onset appears at about one year of age. Late-onset appears later in a child’s life, or even into the teen years or adulthood.

Since this is a genetic condition, the people who get this disease inherit it from a parent. It is common, however, that neither parent shows any symptoms. The disease is a very rare one. In fact, in the U.S., only 1 person in 40,000 is affected by Pompe disease.

Patients with either type of infantile-onset Pompe disease may have their lives prolonged with early detection and treatment. However, both of these types of Pompe disease often are fatal. Patients with classic infantile-onset type rarely live past one year of age. Patients with non-classic infantile–onset type may live to early childhood. Children with later onset types of Pompe disease can live longer, and the disease progresses slower.

Self diagnosis – Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. The first symptom is often a weakness of the legs or hips, which causes a swaying gait or waddle. People may have muscle aches and frequent falls.

How does Pompe Disease affect your body?

Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.

Also, without the proper function of lysosyme enzyme, the glycogen that enters into the lysosomes is not broken down, but continuously builds up and disrupts the normal functions of the lysosome. This means that in Pompe disease (Type II GSD disease), where there is no enzyme to break down the glycogen in the lysosomes, that the lysosomes in the heart (also known as cardiac muscle) and other muscles quickly accumulate large deposits of glycogen. Over time these large deposits of glycogen cause the lysosomes to grow larger and larger and eventually breakdown, thus disrupting the function of the cell and organs that the cells make up, in this case the heart and muscles.

What are the Causes of Pompe Disease?

Pompe disease is caused by pathogenic variations in the acid alpha-glucosidase (GAA) gene. Close to 500 different GAA gene variations have been identified in families with this disorder.

Pompe disease is inherited as an autosomal recessive trait. Recessive genetic disorders occur when an individual inherits two copies of an altered gene for the same trait, one from each parent. If an individual inherits one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms.

What are the Risk Factors of Pompe Disease?

As Pompe disease is a hereditary disease, the only risk of getting it is when one or both of your parents have pompe disease.

What are the symptoms of Pompe Disease?

Common symptoms include :

  • Weak muscles
  • Poor muscle tone
  • Enlarged liver
  • Failure to gain weight and grow at the expected rate (failure to thrive)
  • Trouble breathing
  • Feeding problems
  • Infections in the respiratory system
  • Problems with hearing
  • Motor skills delayed (such as rolling over and sitting)
  • Muscles get steadily weaker
  • Abnormally large heart
  • Breathing problems

Other symptoms that are seen in late-onset type pompe disease are :

  • The legs and the trunk get steadily weaker
  • Breathing problems
  • Enlarged heart
  • Increasing difficulty in walking
  • Muscle pain over a large area
  • Loss of the ability to exercise
  • Falling often
  • Frequent lung infections
  • Shortness of breath when the person pushes himself or herself
  • Headaches in the morning
  • Becoming tired during the day
  • Losing weight
  • Cannot swallow as easily as before
  • Irregular heart beat
  • Increased difficulty hearing
  • Higher levels of creatine kinase (CK) , an enzyme that helps the body’s functions work and provides energy to cells

How is Pompe Disease diagnosed?

Enzyme Activity Testing is used to evaluate a patient’s GAA enzyme level. GAA is the abbreviation for the enzyme that Pompe patients do not produce in sufficient quantities (i.e. they are deficient in). Pompe patients have enzyme levels that range from <1% to 40%. If an abnormal (i.e. low) level of GAA activity is found, then a confirmatory test using a different sample or one of the methods listed below will be used to confirm a diagnosis of Pompe disease.

Whole Blood, Dried Blood Spot, and Lymphocyte Testing are all methods by which a patient’s GAA enzyme level can be tested using blood.

Fibroblasts, which are created from cultured skin biopsies, are another way to measure a patient’s GAA activity. Collecting a skin biopsy is a minimally invasive process that involves removing a very small piece of the patient’s skin.

Muscle biopsies can also be used to collect samples to test for enzyme activity in patients.

DNA Analysis is another method to diagnose Pompe disease. Through this process, the gene that causes Pompe disease is examined to identify the patient’s mutations. Blood or spit can be used to collect a patient’s DNA for this testing method; however, the spit method is only available in the United States at present.

Muscle Tissue Pathology, which is obtained by a muscle biopsy, can also be used to diagnose Pompe disease. This is done by a pathologist who examines the tissue to see if there are vacuoles that stain positively for Pompe disease. However, the absence of vacuoles does not rule out Pompe disease.

How to prevent & control Pompe Disease?

There is no way to prevent pompe disease because it is a hereditary disease.

Treatment of Pompe Disease Allopathic Treatment

Early treatment, especially for babies, is key to holding off the damage in the body.

Two medications replace the missing protein and help your body process sugar correctly. These are Myozyme(for babies and children) and Lumizyme for adults. These medications are taken by injection.

Pompe Disease – Lifestyle Tips

Helping your child be as independent and active as possible – Giving children the chance to do tasks, chores, and activities that are tailored to their age and abilities can help them feel better about themselves. At everyage, it may help to encourage involvement in sports, art, and music programs that meet your child’s need for social interaction and physical activity.

Learning how to advocate for your child’s special needs – For example, work with your child’s school to set up an Individual Educational Program (IEP). This type of plan spells out the services the school must provide for your child, such as a personal aide, special equipment, or adaptive physical education activities.

Taking some time for yourself – If you are caring for someone with Pompe disease, it is very important for you to take breaks from caregiving.

Finding someone reliable and trustworthy to provide care for a short time may reduce stress and allow you to renew your energy. If your child needs round-the-clock care, it is also important for you to be realistic about how much of the caregiving you can handle by yourself.

What are Recommended Exercises for Person with Pompe Disease?

Aerobic exercises, strength training and core stability exercises lead to improvement in fatigue and pain due to Pompe disease.

Common Complications Related to Pompe Disease

Without treatment, infants with Pompe disease will die. Many of the people with Pompe disease have respiratory (breathing) problems, heart problems, and almost all are plagued with muscle weakness. Most people will have to use oxygen and wheelchairs at some point.

Pompe Disease & Pregnancy – Things to know

The management of pregnancies complicated by Pompe disease requires a multidisciplinary approach, including expertise in neuromuscular disease, maternal-fetal medicine, biochemical genetics, pulmonology, anesthesia, and dietetics.

Other FAQs about Pompe Disease

If untreated, this form of Pompe disease leads to death from heart failure in the first year of life. Non classic infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness.

What causes tissue to break down in people with Pompe disease?

Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.

What is enzyme replacement therapy for Pompe?

Pompe disease is a progressive myopathy caused by deficient activity of the lysosomal enzyme acid a-glucosidase that leads to glycogen storage in virtually all body tissues. It is the first hereditary myopathy for which a disease-specific treatment (i.e., enzyme replacement therapy [ERT]) has become available.

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