Conditions / Genetic
hereditary spastic paraplegia 54
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.
Signs and symptoms
- Periventricular white matter hyperintensities
- Hyperreflexia
- Hypoplasia of the corpus callosum
- Global developmental delay
- Spastic paraplegia
- Strabismus
- Dysarthria
- Distal lower limb muscle weakness
- Optic nerve hypoplasia
- Constipation
Also known as: SPG54; autosomal recessive spastic paraplegia 54; autosomal recessive spastic paraplegia type 54