What is Hereditary Spastic Paraplegia?
Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require assistance of a cane, walker, or wheelchair. Though the primary features of HSP are progressive lower extremity spasticity and weakness, more complicated forms may be accompanied by other symptoms. These symptoms include conditions that affect the optic nerve and retina of the eye, cataracts, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Several genetic mutations have been identified which underlie some of the forms of HSP, and specialized geneti
