disease 2,042 words KG: ent-dise-4c11df7a
Contents

Hereditary Transthyretin Amyloidosis (hATTR)

Disease Info
Direct mechanical compressionAmyloid deposits compress nerve fibers within the endoneurium and perineurium
Ischemic injuryAmyloid infiltration of the vasa nervorum compromises the blood supply to peripheral nerves
Toxic oligomer effectsPre-fibrillar TTR oligomers may directly damage neuronal membranes and induce oxidative-stress
Schwann cell dysfunctionAmyloid deposition disrupts Schwann cell integrity, leading to demyelination and impaired axonal support
Autonomic ganglion involvementAmyloid deposits in sympathetic and parasympathetic ganglia cause autonomic dysfunction
Progressive motor weaknessAscending weakness leading to gait difficulty, foot drop, and eventually wheelchair dependence
Neuropathic painOften severe, with burning, shooting, and lancinating qualities
Carpal tunnel syndromeBilateral carpal tunnel syndrome may precede systemic symptoms by years and represents an important diagnostic clue
DatabasesOMIMOrphanetClinicalTrialsPubMed

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