Hereditær spastisk paraplegi type 7
Også kjent som: Spastic paraplegia type 7
Engelsk navn: Spastic paraplegia type 7
Engelske synonym: SPG7
A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, <i>pes cavus</i>, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.