Conditions / Genetic

hereditary spastic paraplegia 23

info · Genetic · ICD-10: G11.4

A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.

Signs and symptoms

  • Vitiligo
  • Multiple lentigines
  • Mild intellectual disability
  • Babinski sign
  • Hyperpigmentation in sun-exposed areas
  • Premature graying of body hair
  • Lower limb muscle weakness
  • Spastic paraplegia
  • Hyperreflexia
  • Loss of ambulation

Also known as: Lison syndrome; SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia 23; spastic paraplegia with pigmentary abnormalities