/hereditary spastic paraplegia 10

hereditary spastic paraplegia 10

Rare Disease

MONDO:0011408

Also Known As

KIF5A hereditary spastic paraplegiaSPG10autosomal dominant spastic paraplegia 10autosomal dominant spastic paraplegia type 10hereditary spastic paraplegia caused by mutation in KIF5Ahereditary spastic paraplegia type 10autosomal dominant spastic paraplegiaspastic paraplegia 10spastic paraplegia 10 with or without peripheral neuropathyspastic paraplegia 10, autosomal dominant

Definition

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.