Pompe Disease

Pompe disease is a genetic disease. (Read about "Genetics") It is also called acid maltase deficiency (AMD). It affects the muscles of the entire body but the heart, respiratory and skeletal muscles are the most seriously affected, according to the National Institute of Neurological Disorders and Stroke (NINDS).

The disease is caused by a genetic mutation that affects the body's ability to make an enzyme called alpha-glucosidase (GAA). The lack of GAA makes it difficult or even impossible for the body to break down glycogen, which is a stored form of sugar used for energy. Without that happening, the body collects excessive amounts of glycogen.

NINDS says there may be as many as 70 different mutations in the genes that control GAA that result in the multiple symptoms of Pompe disease. The level of GAA deficiency affects both the onset and the severity of Pompe disease.

NINDS calls Pompe a rare condition. It is estimated that about one in every 40,000 people are born with the genetic mutation.

A child that is born with a serious or complete lack of GAA often dies within the first year of life, unless the condition is treated early, according to the Muscular Dystrophy Association (MDA). NINDS says that symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. (Read about "Child Development") Respiratory difficulties are often complicated by lung infections. (Read about "Respiratory System") The heart becomes enlarged. (Read about "The Heart & Cardiovascular System") More than half of all infants with Pompe disease also have enlarged tongues, according to NINDS.

If a person is able to produce some GAA, they may live for years without any symptoms of the condition. People have been diagnosed as young children and even into their 60's. Symptoms usually are first noticed as muscle weaknesses in the hips, upper legs, shoulders and upper arms. The respiratory muscles are also affected. The later in life, the less the heart muscle is affected, according to both MDA and NINDS. Prognosis for Pompe patients is dependent on how badly the respiratory muscles are affected.

Diagnosis of Pompe disease is accomplished by a genetic test or measuring the level of GAA enzyme activity in a blood sample - a test that has 100 percent accuracy, according to NINDS. (Read about "Laboratory Testing")

Treatment can involve multiple specialists to handle the affects on the heart, muscles and nervous system and the respiratory system. A drug called alglucosidase alfa has been approved as an enzyme replacement therapy for Pompe disease.

Both parents must carry a defective gene for a child to develop the condition, according to MDA.

Related Information:

    Neuromuscular Diseases