Hereditary spastic paraplegia 7
Hereditary spastic paraplegia 7
Definition
Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.
Also known as hereditary spastic paraplegia 7, hereditary spastic paraplegia caused by mutation in SPG7, hereditary spastic paraplegia type 7, spastic paraplegia type 7, SPG7, SPG7 hereditary spastic paraplegia — per MONDO