Conditions / Genetic
hereditary spastic paraplegia 53
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22.
Signs and symptoms
- Joint hypermobility
- Kyphosis
- Lower limb hypertonia
- Hyperreflexia
- Pectus carinatum
- Clonus
- Delayed speech and language development
- Upper limb hypertonia
- Gait disturbance
- Global developmental delay
Also known as: SPG53; autosomal recessive spastic paraplegia 53; autosomal recessive spastic paraplegia type 53