hereditary spastic paraplegia 45

info · Genetic · ICD-10: G11.4

A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.

Signs and symptoms

Spastic gait
Lower limb spasticity
Motor delay
Thin corpus callosum
Hyperreflexia
Axial hypotonia
Delayed speech and language development
Talipes equinovarus
Babinski sign
Dysarthria

Also known as: SPG45; SPG65; autosomal recessive spastic paraplegia 45; autosomal recessive spastic paraplegia type 45; autosomal recessive spastic paraplegia type 65