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Signs & Symptoms of Pompe Disease

Pompe disease is a genetic condition that weakens the muscles in the body. It primarily affects the heart muscles. It is found at any stage of life, but it is most common in newborn children or people in their 30s or 40s. Pompe disease is normally diagnosed using a series of enzyme and chemical reaction tests. It is treated by a team of specialists each trying to help the body regain the ability to control the muscles in the body.

  1. Fatigue

    • As Pompe disease progresses, the muscles of organs such as the heart and the liver become weaker and they are less able to do their job. When this happens, the person may begin to experience symptoms such as severe fatigue and they may be unable to engage in any kind of exercise at all. The person has a general feeling of being drowsy all day long, and they also may have difficulty breathing if they are not standing up or sitting straight up in a chair.

    Symptoms as an Infant

    • Pompe disease may begin to develop in a newborn child, and the symptoms are usually associated with development. The child may show a lack of appetite, they will experience little or no weight gain, and their muscles may not develop properly leaving the limbs weak. The muscle development in the neck may also be affected and the child may not be able to hold their head up on their own.

    Muscle Symptoms

    • The person may notice that Pompe disease progresses slowly. Their muscles may start to become weak, and they may find it difficult to support their own weight. They may experience problems walking, and they may also find it very difficult to climb stairs or even stand from a seated position. Their leg muscles may become so weak that they are unable to walk without falling frequently.

    Spine Symptoms

    • As the muscles of the body continue to weaken with the onset of Pompe disease, the spine may be unable to properly support the weight of the body. This will cause a curvature in the spine that can also lead to extreme pain when the person tries to stand or walk.

    Breathing Symptoms

    • A person suffering from Pompe disease may experience prolonged bouts of breathing problems including frequent respiratory infections that seem to occur for no reason. The person's breathing may become labored, and they may experience frequent bouts of dizziness and fainting.

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