Pompe Disease: All You Should Know About This Genetic Disorder

Pompe disease is rare genetic disease that occurs from birth or early childhood, here are some factors you must know about this condition.

Puru Bansal
Written by: Puru BansalPublished at: Mar 04, 2022Updated at: Mar 04, 2022
Pompe Disease: All You Should Know About This Genetic Disorder

Genetic disorders are complex in nature. They are usually rare diseases that occur to person from birth, some of them can even cause life-threatening complications whereas others just form a deformity that goes on till the end. Pompe disease is also a genetic disorder that happens when the complex sugar builds up in the cells of the body. This impairs development of muscles and leads them to breakdown in several cases. This rare disease can be treated on the whole and there is an approved treatment for it. Today we will discuss all about this rare genetic disease found in humans and how does it affect their health.

What is Pompe Disease?

Pompe disease is genetic disorder that occurs in cells of the body. In this the glycogen that is complex sugar builds up in the cells that lead to this serious condition. We spoke to Dr. Shivani Khatun, Neurologist from BNK Hospital, Bangalore to know about this genetic disorder in detail. She told that deficiency of an enzyme called acid alfa glucosidase is the cause for breaking down of complex sugar in the body. Glycogen that accumulates over the organs and tissues causes the muscles to form abnormalities and sometimes makes them break down. It is GAA gene that is responsible for breakdown of glycogen and pompe disease. 

Types of Pompe Disease

Pompe disease occurs at three major stages according to which it can be divided into types-

  1. Classic infantile onset that appears within a few months of birth
  2. Non-classic infantile onset that happens to children after 1 year of age
  3. Late-onset that usually appears in later stages of child’s life, most of them have in their teenage years or close to adulthood. 


What is the risk of getting Pompe Disease?

This is a genetic disorder so it travels down from parents to the children. So the major risk involved is any of your parents having this disease. Since it does not have any evident symptoms, it is hard to know pompe disease until the muscles start reacting towards it. Pompe genetic disorder is a rare disease and thus it is hard to know about this disease prior to its occurrence in most conditions. However this disease affects both males and females equally. 

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Symptoms of Pompe Disease

As we speak of types, the symptoms might also differ according to the onset of pompe disease. Therefore it is best to know about symptoms according to the disease and type of occurrence. Here are the following symptoms-

Classic type of pompe disease symptoms-

  • Weakness in muscles
  • Poor muscular tone
  • Enlarged liver 
  • Delay or failure in growth and weight again according to age
  • Having problems in breathing
  • Feeding problems
  • Hearing loss or hearing difficulties
  • Infection in the respiratory system

Symptoms in Non-classic pompe onset-

  • Delay in development of motor skills in children
  • Muscles start getting weaker
  • Breathing issues
  • Abnormally large heart

Late-onset type, including symptoms in adults

  • The legs and trunk section of the body gets weaker
  • Shortness of breath and breathing issues
  • Having enlarged heart
  • Difficulty in walking that becomes evident with time
  • Loss of muscle ability of exercise
  • Muscle pain in large section of body
  • Frequent lung infection
  • Having serious headaches in the morning
  • Tiredness and risk of falls increases
  • Irregular heart beat
  • Losing weight
  • Hearing problems
  • Higher creatine kinase levles (enzyme helping body functions to work and provide energy)

Diagnosis of Pompe Disease

Blood sample is taken in order to study and know about the enzyme in the body in this disease. In pompe disease there is no direct method to find out whether or not you have this genetic disorder. There are different types of test that study about the sleep, breathing and lung capacity to know about current condition of the body. 

Electromyography is also conducted to find out the muscle functions and measurement of muscles effectiveness in the body. Blood sample taken from the person’s body is used to count the enzymes that are present. Confirmation of this test is made through DNA testing. Other general tests can include of the following-

  • Heart study including X-rays, electrocardiogram and echocardiogram
  • Sleep studies
  • Taking a complete history of patient and family
  • Breathing tests that helps to measure lung capacity of patient
  • Test to measure muscle function and MRI
  • Prenatal diagnosis in case of pregnant women if they are found to be at risk


What is the Treatment for Pompe Genetic Disorder?

Pompe disease is treated through a enzyme replacement therapy. According to Dr. Shivani, this is an approved treatment that replaces the defected enzymes from new ones that can aid in recovery of the patient. There is a drug called alglucosiadase alfa that is given to the patient suffering from pompe disease intravenously. This is a genetically engineered drug that is given to the patients to act as naturally occurring acid alfa glucosidase in many conditions.

All types of specialists are required to monitor and treat the patient with this disease. This happens so because there are multiple functions and problems in the system involved that need to be administered at the same time. You must consult your doctor if you have any such signs of pompe disease in children or family.

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Complications of Pompe Disease

If infants and children do not get proper treatment of this condition at the right time, then there can be many complication of this genetic disorder. In several cases, patients of pompe disease have respiratory problems, heart problems and severe muscle weakness. Infants have even died because of this disease due to lack of timely treatment. People also have oxygen deficiency because of which then need to put oxygen masks. Most of the cases of pompe genetic disorder end up on being wheelchair because muscles get so weak that they are not able to stand or walk on their feet.

Tips for Treating Pompe Disease

Since it is a genetic disorder, it cannot be prevented. But the risk of severity and death can be minimized by taking right precautions. Here are some tips given by expert to lower the risk of pompe disease-

  1. Do not hesitate to get blood tests and checkups done for pompe disease if anyone in your family had this genetic disorder before.
  2. Try to get medical help as soon as possible in order to get this condition treated; usually classic type of pompe disease can be treated with help of enzyme treatment if examined at the right time.
  3. Do not force the muscles or person to walk or do any activity having this genetic disorder. This disorder cannot be treated with physical therapy, hence do not force the muscles as it can make the conditions worse and lead to broken muscles. 
  4. Get regular checkups done even after treatment of pompe disease. This helps to understand if the genetic development going on in right direction or not.

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