Catalog

Autosomal recessive spastic paraplegia type 14

No MMS code

Link to WHO Definition

Autosomal recessive spastic paraplegia type 14 – http://id.who.int/icd/entity/1304184567

Autosomal recessive spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency, and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.