Catalog

Autosomal dominant spastic paraplegia type 3

No MMS code

Link to WHO Definition

Autosomal dominant spastic paraplegia type 3 – http://id.who.int/icd/entity/39845134

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.