Conditions / Genetic
hereditary spastic paraplegia 46
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.
Signs and symptoms
- Cerebellar atrophy
- Lower limb spasticity
- Lower limb muscle weakness
- Hyperreflexia
- Cerebral atrophy
- Babinski sign
- Hypoplasia of the corpus callosum
- Dementia
- Spastic paraplegia
- Upper limb spasticity
Also known as: SPG46; autosomal recessive spastic paraplegia 46; autosomal recessive spastic paraplegia type 46