Catalog

Autosomal dominant spastic paraplegia type 31

No MMS code

Link to WHO Definition

Autosomal dominant spastic paraplegia type 31 – http://id.who.int/icd/entity/508586160

Autosomal dominant spastic paraplegia characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood. In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy with dysarthria and dysphagia, distal amyotrophy, and impaired distal vibration sense.