hereditary spastic paraplegia (familial spastic paralysis)

Pathology

• degeneration of corticospinal axons (primary)
• in complicated cases
  • optic neuropathy
  • retinopathy

Clinical manifestations

• progressive weakness & spasticity of the legs (primary)
• progression & the severity of symptoms is variable
• initial symptoms may include
  • difficulty with balance
  • weakness & stiffness in the legs
  • muscle spasms
  • dragging the toes when walking
• bladder symptoms i.e. incontinence may occur
• weakness & stiffness may spread to other parts of the body
• in complicated cases
  • mental retardation &/or dementia
  • ataxia
  • ichthyosis
  • peripheral neuropathy
  • deafness

Management

• no specific treatment
• physical therapy for improving muscle strength & preserving range of motion.
• prognosis
  • some cases are seriously disabling while others are less disabling & are compatible with a productive & full life
  • majority of individuals with HSP have a normal life expectancy

More general terms

• spastic paraplegia
• genetic disease of the central nervous system

More specific terms

• spastic paraplegia type 1
• spastic paraplegia type 2 (X-linked)
• spastic paraplegia type-10
• spastic paraplegia type-11
• spastic paraplegia type-13
• spastic paraplegia type-17 (silver spastic paraplegia syndrome)
• spastic paraplegia type-20 (Troyer syndrome)
• spastic paraplegia type-21 (Mast syndrome, SPG21)
• spastic paraplegia type-31
• spastic paraplegia type-33
• spastic paraplegia type-4 (Strumpell-Lorrain syndrome)
• spastic paraplegia type-6
• spastic paraplegia type-7
• spastic paraplegia type-8

Patient information

hereditary spastic paraplegia patient information

Database

• OMIM: https://mirror.omim.org/entry/308750