hereditary spastic paraplegia 10
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.
MONDO:0019064
hereditary spastic paraplegia
is_a
MONDO:0100629
KIF5A-related neurological disorder
is_a
KIF5A hereditary spastic paraplegia
exact
SPG10
exact
autosomal dominant spastic paraplegia
related
autosomal dominant spastic paraplegia type 10
exact
hereditary spastic paraplegia caused by mutation in KIF5A
exact
hereditary spastic paraplegia type 10
exact
spastic paraplegia 10
related
spastic paraplegia 10, autosomal dominant
related
SPAC144.14