What POMPE DISEASE means: Pompe Disease - is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.
- Definition Paroxysmal Choreoathetosis:
- Dictionary Choreoathetosis - is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family pompe disease definition.
- Definition Periodic Paralyzes:
- Dictionary Familial periodic paralyzes are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes pompe disease explain.
- Definition Perineural Cysts:
- Dictionary Tarlov cysts are fluid-filled sacs that most often affect nerve roots in the sacrum, the group of bones at the base of the spine. These cysts can compress nerve roots, causing lower back pain pompe disease what is.
- Definition Prion Diseases:
- Dictionary Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" pompe disease meaning.
