Conditions / Genetic

hereditary spastic paraplegia 28

info · Genetic · ICD-10: G11.4

A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.

Signs and symptoms

  • Hyperreflexia
  • Scoliosis
  • Pes cavus
  • Gait disturbance
  • Babinski sign
  • Lower limb spasticity
  • Lower limb muscle weakness
  • Distal sensory impairment
  • Peripheral axonal neuropathy
  • Spastic paraplegia

Also known as: SPG28; autosomal recessive spastic paraplegia 28; autosomal recessive spastic paraplegia type 28