Tag: Peripheral Neuropathy

  • Transthyretin Methionine-30 Amyloidosis (Type I)

    Transthyretin Methionine-30 Amyloidosis (Type I): Definition and Description of Transthyretin Methionine-30 Amyloidosis (Type I): Transthyretin Methionine-30 Amyloidosis (ATTR-M30), a hereditary form of amyloidosis, is characterized by the deposition of misfolded transthyretin (TTR) protein in tissues and organs. The disease arises from a mutation in the TTR gene on chromosome 18, specifically within the codon for…

  • Transthyretin Familial Amyloid Polyneuropathy

    Transthyretin Familial Amyloid Polyneuropathy: Definition and Description of Transthyretin Familial Amyloid Polyneuropathy: Transthyretin Familial Amyloid Polyneuropathy (ATTR-FAP) is a rare hereditary disorder caused by the accumulation of amyloid proteins in various tissues and organs, particularly affecting peripheral nerves. ATTR-FAP is related to the misfolding of transthyretin (TTR), a protein produced by the liver that is…

  • Prealbumin Tyr-77 Amyloidosis

    Prealbumin Tyr-77 Amyloidosis: Definition and Description of Prealbumin Tyr-77 Amyloidosis: Prealbumin Tyr-77 Amyloidosis is a rare form of systemic amyloidosis characterized by the misfolding and aggregation of the prealbumin protein (also known as transthyretin) at the Tyr-77 amino acid position. This condition results in the deposition of amyloid fibrils in various tissues and organs, leading…

  • Multiple Peripheral Neuritis

    Multiple Peripheral Neuritis: Definition and Description of Multiple Peripheral Neuritis: Multiple Peripheral Neuritis, commonly referred to as peripheral neuropathy, involves inflammation and damage to multiple peripheral nerves throughout the body. This condition can lead to a disruption in the transmission of signals between the brain and spinal cord to the rest of the body. The…

  • Axonal Neuropathy, Giant

    Axonal Neuropathy, Giant Definition and Description of Axonal Neuropathy, Giant Axonal Neuropathy, Giant is a form of peripheral neuropathy characterized by damage to the axons of peripheral nerves. This condition affects the transmission of signals between the brain, spinal cord, and extremities, leading to various sensory and motor dysfunctions. Axonal neuropathy can be classified as…