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hereditary sensory neuropathy type 1F

info ยท Nervous system

A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone de

A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.

Signs and symptoms

  • Sensory axonal neuropathy
  • Hallux valgus
  • Impaired pain sensation
  • Hypoesthesia
  • Metatarsal fracture
  • Neuropathic arthropathy
  • Osteolytic defects of the phalanges of the hand
  • Hyporeflexia of lower limbs
  • Osteomyelitis
  • Hyperkeratosis

Also known as: HSN1F; hereditary sensory neuropathy type IF