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 Neuroleptic Malignant Syndrome:
- Dictionary Malignant Syndrome - (NMS) is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. It generally presents with muscle rigidity neurological manifestations of pompe disease definition.
- Definition Neurodegeneration With Brain Iron Accumulation:
- Dictionary with Brain Iron Accumulation - (NBIA) is a rare, inherited, neurological movement disorder characterized by progressive degeneration of the nervous system. Symptoms, which vary greatly among patients neurological manifestations of pompe disease explain.
- Definition Neuronal Migration Disorders:
- Dictionary Neuronal Migration Disorders - (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system neurological manifestations of pompe disease what is.
- 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 meaning.