Hereditary spastic paraplegia 28
Hereditary spastic paraplegia 28
Definition
Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
Also known as autosomal recessive pure spastic paraplegia caused by mutation in DDHD1, autosomal recessive spastic paraplegia type 28, DDHD1 autosomal recessive pure spastic paraplegia, hereditary spastic paraplegia 28, hereditary spastic paraplegia type 28, SPG28 — per MONDO