Conditions / Nervous system

hereditary sensory neuropathy type 1E

info ยท Nervous system

A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome

A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13.

Signs and symptoms

  • Dementia
  • Sensory neuropathy
  • Hearing impairment
  • Hyporeflexia
  • Cerebral atrophy
  • Memory impairment
  • Excessive daytime somnolence
  • Decreased number of peripheral myelinated nerve fibers
  • Delirium
  • Impulsivity

Also known as: HSAN1E; HSN1E; hereditary sensory and autonomic neuropathy type 1E; hereditary sensory and autonomic neuropathy type IE; hereditary sensory neuropathy type IE