/hereditary spastic paraplegia 7

hereditary spastic paraplegia 7

Rare Disease

MONDO:0011803

Also Known As

SPG7SPG7 hereditary spastic paraplegiaautosomal recessive spastic paraplegia 7hereditary spastic paraplegia 7hereditary spastic paraplegia caused by mutation in SPG7hereditary spastic paraplegia type 7spastic paraplegia type 7hereditary spastic paraplegia paraplegin typespastic paraplegia 7spastic paraplegia 7, autosomal recessive

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.