What NEUROLOGICAL MANIFESTATIONS OF POMPE DISEASE means: Neurological Manifestations of Pompe Disease - Pompe disease is a rare 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.
- Definition Neuromyelitis Optica Or Devic'S Disease:
- Dictionary Optica or Devic's disease - an autoimmune, inflammatory disorder in which a person's own immune system attacks the optic nerves and spinal cord. This produces an inflammation of the optic neurological manifestations of pompe disease definition.
- Definition Neurotoxicity:
- Dictionary occurs when the exposure to natural or manmade toxic substances, which are called neurotoxins, alters the normal activity of the nervous system. This can eventually disrupt or even kill neurons, key neurological manifestations of pompe disease explain.
- Definition Neuroacanthocytosis:
- Dictionary a rare movement disorder marked by progressive muscle weakness and atrophy, progressive cognitive loss, chorea (involuntary twisting movements of the body), and acanthocytosis (spiked red blood neurological manifestations of pompe disease what is.
- Definition Neurological Complications Of Lyme Disease:
- Dictionary Complications Of Lyme Disease - Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people bitten by an infected tick develop a neurological manifestations of pompe disease meaning.