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 Porencephaly:
- Dictionary an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection pompe disease definition.
- Definition Pinched Nerve:
- Dictionary term pinched nerve describes one type of damage or injury to a nerve or set of nerves. The injury may result from compression, constriction, or stretching. Symptoms include numbness, "pins and pompe disease explain.
- Definition Paraneoplastic Syndromes:
- Dictionary Syndromes - are a group of rare degenerative disorders that are triggered by a person's immune system response to a neoplasm, or cancerous tumor. Neurologic paraneoplastic syndromes are believed pompe disease what is.
- Definition Pantothenate Kinase-Associated Neurodegeneration:
- Dictionary Associated Neurodegeneration - (PKAN), also known as Hallervorden-Spatz syndrome, is a degenerative disease of the brain, which can lead to parkinsonism. Neurodegeneration in PKAN is accompanied by pompe disease meaning.
