Alternative Names
Acid Maltase Deficiency Disease; Aglucosidase alfa; alpha-1,4-Glucosidase deficiency; cardiomegalia glycogenica diffusa; Deficiency of alpha-glucosidase; Deficiency of lysosomal alpha-glucosidase; GAA deficiency; Generalized Glycogenosis, Cardiac Form; Glycogenosis Type II; Glycogen Storage Disease Type II; GSD II; Lysosomal alpha-1,4-glucosidase deficiency; Pompe's Disease; Pompes Disease
Symptoms & Characteristics
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.
One type of Pompe disease, known as infantile onset, begins within a few months of birth. Infants with this disorder typically exhibit symptoms such as muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver and heart, and heart failure. Affected infants may also have poor feeding, failure to gain weight and grow at the expected rate (failure to thrive), and breathing problems. Most infants with Pompe disease cannot hold up their heads or move normally. As the disease progresses, swallowing may become difficult and the tongue may become abnormally enlarged (macroglossia). Most children with this form of Pompe disease do not survive beyond the age of 2.
Other forms of Pompe disease are known as late onset and may not show signs and symptoms until childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset form of this disorder. Most individuals experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing.
Treatment
The management and treatment of Pompe disease depends on the specific symptoms. Early diagnosis, routine surveillance and treatment may help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
Pompe disease affects about 1 in 40,000 people.
Genetics & Inheritance
Mutations in the GAA gene cause Pompe disease.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Two carriers have a 25% chance with each pregnancy to have an affected child.
Genetic Testing
Clinical genetic testing for Pompe disease may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
Support & More Information
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