Conditions / Genetic
hereditary spastic paraplegia 55
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24.
Signs and symptoms
- Lower limb spasticity
- Tibialis anterior muscle atrophy
- Lower limb muscle weakness
- Reduced visual acuity
- Hyperreflexia
- Impaired distal tactile sensation
- Lower limb amyotrophy
- Optic atrophy
- Central scotoma
- Spastic paraplegia
Also known as: SPG55; autosomal recessive spastic paraplegia 55; autosomal recessive spastic paraplegia type 55