Autosomal dominant spastic paraplegia type 3 (Q100878)

Autosomal dominant spastic paraplegia caused by defect of guanylate-binding protein (ATL1) and presents with childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.