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 Narcolepsy:
- Dictionary neurological condition most characterized by Excessive Daytime Sleepiness (EDS). A narcoleptic will most likely experience disturbed nocturnal sleep, which is often confused with insomnia, and neurological manifestations of pompe disease definition.
- 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 explain.
- 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 what is.
- Definition Normal Pressure Hydrocephalus:
- Dictionary Hydrocephalus - (NPH) is an abnormal increase of cerebrospinal fluid (CSF) in the brain's ventricles, or cavities. It occurs if the normal flow of CSF throughout the brain and spinal cord is neurological manifestations of pompe disease meaning.
