Conditions / Genetic
hereditary spastic paraplegia 90A
info · Genetic
A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1.
Signs and symptoms
- Axial hypotonia
- Scoliosis
- Delayed speech and language development
- Short stature
- Delayed ability to walk
- Nevus flammeus
- Spastic gait
- Appendicular spasticity
- Intellectual disability
- Dysphagia
Also known as: SPG90A; autosomal dominant spastic paraplegia 90A