Conditions / Genetic

hereditary spastic paraplegia 62

info · Genetic · ICD-10: G11.4

A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24.

Signs and symptoms

  • Skeletal muscle atrophy
  • Gait disturbance
  • Lower limb spasticity
  • Abnormal cerebellum morphology
  • Spasticity
  • Hyperreflexia
  • Babinski sign
  • Lower limb hyperreflexia
  • Tip-toe gait
  • Spastic gait

Also known as: SPG62; autosomal recessive spastic paraplegia 62; autosomal recessive spastic paraplegia type 62