Conditions / Genetic

hereditary spastic paraplegia 57

info · Genetic · ICD-10: G11.4

A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12.

Signs and symptoms

  • Visual loss
  • Babinski sign
  • Delayed ability to walk
  • Lower limb spasticity
  • Hand muscle atrophy
  • Demyelinating motor neuropathy
  • Lower limb amyotrophy
  • Optic atrophy
  • Loss of ambulation
  • Spastic paraplegia

Also known as: SPG57; autosomal recessive spastic paraplegia 57; autosomal recessive spastic paraplegia type 57