/hereditary spastic paraplegia 28

hereditary spastic paraplegia 28

Rare Disease

MONDO:0012256

Also Known As

DDHD1 autosomal recessive pure spastic paraplegiaSPG28autosomal recessive pure spastic paraplegia caused by mutation in DDHD1autosomal recessive spastic paraplegia 28autosomal recessive spastic paraplegia type 28hereditary spastic paraplegia 28hereditary spastic paraplegia type 28spastic paraplegia 28, autosomal recessive

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.