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Pompe Disease: Symtoms, Causes, and Treatments

15 September, 2020 Nisar Malik

When your body is unable to make the protein that breaks down glycogen, a complex sugar for energy, this situation is called Pompe disease that is also known as glycogen storage disease type II this is the disorder that usually causes muscle weakness and trouble breathing. It mostly attacks the liver, heart, and muscles.

Pompe disease is a wide topic to learn, that’s why for comfort it has been divided into three types, depending on the age at which it first appears and according to its severity -- classic infantile, non-classic infantile, late-onset.

There are three types of Pompe disease:

• Classic infantile-onset that appears within a few months of birth.

• non-classic infantile-onset that appears at about 1 year of age.

• Late-onset that appears in a child’s life later

Symptoms of Pompe disease

Symptoms are not the same for all the Pompe diseases rather there are different type of symptoms that depends on the time when the disease appears. These symptoms include:

Classic type:

• Weak muscles

• Poor muscle tone

• Enlarged liver

• Failure to thrive)

• Trouble breathing

• Feeding problems

• Infections in the respiratory system

• Problems with hearing

Non-classic type:

• Motor skills delayed

• Muscles get steadily weaker

• Abnormally large heart

• Breathing problems

Late-onset type, which includes adult-onset:

• The legs get steadily weaker.

• Breathing problems

• Enlarged heart

• Difficulty in walking

• Muscle pain over a large area

• Loss of the ability to exercise

• Falling often

• Frequent lung infections

• Shortness of breath

• Headaches in the morning

• Becoming tired during the day

• Losing weight

• Cannot swallow as easily as before

• Irregular heartbeat

• Increased difficulty hearing

Causes of Pompe disease

In the alpha-glucosidase gene, the pathogenic variations caused Pompe disease. There are different types of GAA that exist, till now almost 500 different GAA gene variations have been identified in those families that have this disorder.

Same as autosomal recessive trait Pompe disease is also inherited. When an individual inherits two copies of an altered gene for the same trait it occurs recessive genetic disorders. A person will be a carrier for the disease but usually without symptoms if he inherits one normal gene and one gene for the disease.

Treatment of Pompe disease

For all the patients of Pompe disease, a treatment therapy known as enzyme replacement therapy is available. In this therapy, an alglucosidasa alfa named drug is given through the patient’s vein. This drug acts like the naturally occurring alfa glucosidase enzyme acid this drug is a genetically engineered enzyme. This drug can be found easily in a medical store and one can buy prescribed drugs from an online medicine store in Delhi too.

Pompe disease doesn’t affect any specific part of the body rather it affects various part parts of the body that’s why different specialists like heart doctors, respiratory therapists, neurologists, etc. are needed to treat symptoms and offer supportive care for those with Pompe disease. It is required for each and every patient to ask their doctors about details for each specific case.

Complications of Pompe disease

Pompe disease is a serious medical condition if it left untreated it can cause death as it did in many cases. Breathing problems and heart problems can be found in many of the people with Pompe disease but muscle weakness can be found commonly in almost all the patients. But at some point, the patient of Pompe disease will have to use oxygen and wheelchairs.

Take care of yourself

It is normal to be exerted with these types of diseases but there is one thing to remember and that is your well-being because it matters the most. Try to avoid getting overexerted and also avoid to lose the track of your own health while taking care of others. When you are busy taking care of others you must develop the following habits for your well being:

• Establish good dietary habits

• Avoid nicotine and alcohol

• Exercise regularly

• Seek support when needed

• Take breaks at regular intervals


That was all the main and important points that we should know. Pompe disease is a medical emergency that required urgent treatment by various specialists in various areas of human health.