What INFANTILE REFSUM DISEASE means: Infantile Refsum Disease - is a disorder characterized by the reduction or absence of peroxisomes in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering - which acts as an insulator - on nerve fibers in the brain.
- Definition Infantile Hypotonia:
- Dictionary or severely reduced muscle tone (the amount of tension or resistance to movement in a muscle), is seen primarily in children. It is not the same as muscle weakness but it can co-exist with muscle infantile refsum disease definition.
- Definition Infantile Spasms:
- Dictionary IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and early childhood known as West Syndrome. The onset is predominantly in the first year of life, typically between 3-6 infantile refsum disease explain.
- Definition Incontinentia Pigmenti:
- Dictionary Pigmenti - (IP) is one of a group of gene-linked diseases known as neurocutaneous disorders. These disorders cause characteristic patterns of discolored skin and also involve the brain, eyes, nails infantile refsum disease what is.
- Definition Immune-Mediated Encephalomyelitis:
- Dictionary Encephalomyelitis - Acute disseminated encephalomyelitis (ADE) is a neurological disorder involving inflammation of the brain and spinal cord. A hallmark of the disorder is damage to the myelin infantile refsum disease meaning.
