/hereditary spastic paraplegia 12

hereditary spastic paraplegia 12

Rare Disease

MONDO:0011489

Also Known As

RTN2 hereditary spastic paraplegiaSPG12autosomal dominant spastic paraplegia 12autosomal dominant spastic paraplegia type 12hereditary spastic paraplegia caused by mutation in RTN2hereditary spastic paraplegia type 12spastic paraplegia 12spastic paraplegia 12, autosomal dominant

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.