Hereditary spastic paraplegia 12
Hereditary spastic paraplegia 12
Definition
Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
Also known as autosomal dominant spastic paraplegia type 12, hereditary spastic paraplegia caused by mutation in RTN2, hereditary spastic paraplegia type 12, RTN2 hereditary spastic paraplegia, SPG12 — per MONDO