Conditions / Genetic

hereditary spastic paraplegia 17

info · Genetic · ICD-10: G11.4

A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.

Signs and symptoms

  • Decreased motor nerve conduction velocity
  • Impaired distal proprioception
  • Babinski sign
  • Pes cavus
  • Distal amyotrophy
  • Impaired distal tactile sensation
  • Distal muscle weakness
  • Postural tremor
  • Split hand
  • Spastic paraplegia

Also known as: SPG17; Silver spastic paraplegia syndrome; Silver syndrome; autosomal dominant spastic paraplegia 17; autosomal dominant spastic paraplegia type 17