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Pompe's Disease

Pompe's Disease Causes

The disease is due to body's deficiency in acid maltase, which is an enzyme needed to break down glycogen -- a form of sugar stored in the body used for energy. The disease is genetically acquired from both parents having the defectivel gene.

Pompe's Disease Definition

Pompe's disease is a metabolic disorder in which the body an acid maltase deficiency.

Pompe's Disease Diagnosis

To diagnose Pompe's disease, possible causes must first be eliminated because the symptoms are varied among patients, and that those symptoms can also be observed in other diseases. Patients may also be required to undergo electromyography or electrocardiography. Enzyme activity testing may definitively diagnose of Pompe disease. However, a conclusive diagnosis is done through cultured skin fibroblasts, muscle biopsy, lymphocyte testing. Prenatal screening may also be done to check whether the unborn child is at risk of having the disease.

Pompe's Disease Symptoms and Signs

Due to glycogen build-up, the patient feels a weakness in the muscles throughout the body affecting other body tissues, specifically the heart muscles, skeletal muscles, liver and nervous system.

Pompe's Disease Treatment

Some patients benefit from physical and occupational therapies. Others alter their diet, which may temporarily improve their conditio, but does not cure the disease. Families at risk of having the disease may undergo genetic counseling to gain with regards to the risk in future pregnancies. Complications due to the disease are treated symptomatically.

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