Hereditary spastic paraplegia 30

Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.

Also known as: KIF1A hereditary spastic paraplegia, SPG30, autosomal spastic paraplegia type 30, hereditary spastic paraplegia caused by mutation in KIF1A, hereditary spastic paraplegia type 30, spastic paraplegia 30, autosomal dominant

2 clinical trials for this condition and its sub-types, 0 tagged with Hereditary spastic paraplegia 30 itself.