Catalog

Autosomal dominant spastic paraplegia type 38

No MMS code

Link to WHO Definition

Autosomal dominant spastic paraplegia type 38 – http://id.who.int/icd/entity/1487713774

A hereditary spastic paraplegia caused by variation in chromosome region 4p16-p15. Characterized by mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Also associated with impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction.