Pompe Disease – Symptoms, Diagnosis and Treatment

What is Pompe Disease?

Pompe disease is a neuromuscular kind of disorder that is multisystemic and progressively fatal in nature. It was coined by a Dutch Pathologist named Joannes C. Pompe. It is known as a genetic condition occurring when there is minimal glycogen, which is a type of sugar, stores in the body’s cells.


Without glycogen, the function of important muscles such as the heart will be very much affected. With this disease, the GAA or Alpha Glucosidase is oblivious or is decreased significantly.

Hence, excessive glycogens are not broken down and are left to accumulate in the tissues, which shouldn’t be the case for it will result to damage. It is also known as glycogen storage disease type II, AMD, alpha-1,4- Glucosidase deficiency, GSD II or acid maltase deficiency. The effect of this, result to problems that deal with important body organs of the body, such as the heart, the lungs and the muscle per se. This disease will make the muscles weak. The most affected individuals are the infants or children. However, there are occurrences that adults are not exempted from having the disease. The infants or children are the ones who are often reported to have a diagnosis of this disease condition.

Pompe disease pathophysiology picturesImage source – wikipedia.org


There are actually two forms of this disease: The Juvenile form and the adult form.

1. Juvenile form

With regards to the Juvenile form, it occurs in the primary decade of respiratory difficulties and weakness of the proximal area. It often resembles the dystrophy of the limb-girdle.

2. Adult form

On the other hand, the adult form varies. It may occur within the second to the sixth decade. It is in here where the lower limbs appear to be more severely affected. The respiratory muscles are weak disproportionately. Due to this, some cases may be fatal because it can lead to respiratory failure.

Symptoms & Signs

As mentioned earlier, the pompe disease can affect infants, children and adults alike.

The infants who have this disease will manifest the following symptoms:

  1. weakness of the muscles
  2. enlargement of the liver and heart
  3. breathing problems
  4. unable to eat well
  5. dysphagia or swallowing difficulties
  6. enlarge tongue
  7. has a hard time in holding the head up
  8. no or little weight gain

Meanwhile, the adults are reported to manifest the following symptoms:

  1. having difficulty in climbing or walking in the stairs
  2. generalized weakness in the muscles

Due to the fact that there is accumulation of glycogen in the tissues, the muscles of that organ having increase glycogen will, in time, experience fatigue leading to generalized body weakness. When this happens, the person will have difficulty in engaging in any kind of physical activities. They become drowsy all day long.

They also will encounter difficulty in breathing and in sitting or climbing the stairs, for instance. With regards to infants, their development will be affected. The child or infant shows lack of appetite, experiencing little or no weight gain at all, and may have problems with their muscle development. As a result of having problems in their muscular development, the child may not be able to effectively hold their head up by their own. Aside from that, they will experience muscle symptoms.

The disease itself will progress gradually. They might notice that as the disease progresses, they become more and more weak. They will have difficulty walking, climbing stairs or even standing from a sitting position. Since, they have difficulty walking; they are prone to injuries due to falling. There is also what is called as spine symptoms. What occurs here is during the phase where the muscle weakens, the spine may not be able to fully support the body’s weight. This will result to spinal curvature and will be painful whenever they walk or stand. Lastly, they will have breathing symptoms. They experience episodes of dizziness, labored breathing and fainting.


To diagnose such disease condition, the symptoms has to be present. However, this first step enough won’t make you directly conclude that it is Pompe. The confirmatory diagnosis for this disease will rely mostly on examination of the Acid Alpha Glucosidase activity which is seen in cultured skin cells of a particular person claiming to manifest its symptoms. Blood test can also be done in adults. In diagnosing, you should keep in mind that the correct confirmation that a person has this kind of disease, the enzyme should be reduced or absent.


ERT or Enzyme Replacement Treatment

The present treatment for this disease is ERT or enzyme replacement treatment. Since the disease either lacks, can’t manufacture nor has insufficient supply of the enzyme called Acid Alpha Glucosidase.


While those who are infant or children who also have the disease, are prescribed and treated with Myozyme, which is a lysosomal glycogen specific enzyme.


Lumizyme, which is an algluosidase alfa medication, which is an FDA approved drug that treats late onset or non-infantile persons diagnosed with this disease condition.

Multidisciplinary Team Approach

In order to effectively treat this disease condition, a team approach is needed. The team members includes speech therapist, genetic counselors, respiratory therapist, occupational therapist, nutritionist or dietician, psychosocial therapist, and finally physical therapist.


When the disease is diagnosed at an early stage in an infant child, disease progresses rapidly, with delay of treatment or without any interventions being done, the prognosis is poor. Chances are, the infant will die. Children and Adults, alike, displayed the rates of the progression of this disease in a more gradual and variable manner.

The prognosis with this kind of disease will depend upon the age of onset. Usually without any treatment such as ERT or enzyme replacement therapy or treatment, the infant’s heart will enlarge and thickens gradually. They eventually die before one year of age from infection of the respiratory or cardiorespiratory failure. The later the onset, the progression of this disease is much slower compared to that of the early onset, which is poorer. In addition to that, the prognosis will depend also upon the respiratory muscular involvement.


Here are few pictures on Pompe disease

 Pompe disease pictures

Pompe disease images

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