hereditary spastic paraplegia 28
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.
MONDO:0015149
pure hereditary spastic paraplegia
is_a
DDHD1 autosomal recessive pure spastic paraplegia
exact
SPG28
exact
autosomal recessive pure spastic paraplegia caused by mutation in DDHD1
exact
autosomal recessive spastic paraplegia type 28
exact
hereditary spastic paraplegia 28
exact
hereditary spastic paraplegia type 28
exact
spastic paraplegia 28, autosomal recessive
related
SPAC4F8.15 SPCC1020.13c SPAC20G8.02