Hereditary spastic paraplegia 10

MONDO:0011408

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.

Also known as: KIF5A hereditary spastic paraplegia, SPG10, autosomal dominant spastic paraplegia type 10, hereditary spastic paraplegia caused by mutation in KIF5A, hereditary spastic paraplegia type 10, autosomal dominant spastic paraplegia, spastic paraplegia 10, spastic paraplegia 10 with or without peripheral neuropathy

2 clinical trials for this condition and its sub-types, 0 tagged with Hereditary spastic paraplegia 10 itself.

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