Conditions / Genetic
hereditary spastic paraplegia 88
info · Genetic
A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2.
Signs and symptoms
- Muscle stiffness
- Delayed ability to walk
- Babinski sign
- Lower limb hyperreflexia
- Lower limb spasticity
- Motor delay
- Lower limb muscle weakness
- Unsteady gait
- Delayed speech and language development
- Sensory ataxia
Also known as: SPG88; autosomal dominant spastic paraplegia 88