What is Pompe Disease? Is there any treatment? What is the prognosis? What research is being done? Select this link to view a list of studies currently seeking patients. Association for Glycogen Storage Disease Acid Maltase Deficiency Association (AMDA) Muscular Dystrophy Association
Pompe disease is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. Children have a 1 in 4 chance of inheriting the disease when both parents carry the abnormal gene. Also known as infantile acid maltase deficiency and type 2 glycogen storage disease, Pompe disease is estimated to occur in about 1 in 40,000 births.
Pompe disease has three forms defined by age of onset and progression of symptoms:
Infantile, or early onset, is noticed shortly after birth. Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.
Juvenile onset symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, diaphragm, and lower limbs, as well as exercise intolerance. Intelligence is normal. Most patients do not live beyond the second or third decade of life.
Adult onset symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations
Cardiac and respiratory complications are treated symptomatically. Physical and occupational therapy may be beneficial for some patients. Alterations in diet may provide temporary improvement but will not alter the course of the disease. Genetic counseling can provide families with information regarding risk in future pregnancies.
The prognosis for individuals with Pompe disease varies according to the onset and severity of symptoms. The disease is particularly lethal in infants and young children.
The NINDS supports research on glycogen storage diseases including Pompe disease with the goal of finding effective treatments or prevention strategies. Early studies using enzyme replacement for Pompe disease were unsuccessful, which led to a halt of such trials for some time. Recent trials in human and animal models have shown some success. A study of 3 infants with classic infantile Pompe disease, who were given twice-weekly injections of recombinant human GAA (a genetically engineered acid maltase protein), showed improvement in skeletal muscle function and lasting improvement in cardiac function. The babies, who have reached 2 years of age, weren’t expected to live beyond age 1 without treatment. Other research involves gene therapy for acid maltase deficiency in animal models.
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