Conditions / Genetic

hereditary spastic paraplegia 2

info · Genetic · ICD-10: G11.4

A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2.

Signs and symptoms

  • Nystagmus
  • Skeletal muscle atrophy
  • Babinski sign
  • Dysmetria
  • Pes cavus
  • Flexion contracture
  • Dysarthria
  • Spastic gait
  • Lower limb spasticity
  • Lower limb muscle weakness

Also known as: SPG2; X-linked spastic paraplegia 2; spastic paraplegia type 2