Conditions / Genetic
hereditary spastic paraplegia 76
info · Genetic
A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13.
Signs and symptoms
- Cerebellar atrophy
- Gait imbalance
- Cerebellar vermis atrophy
- Spastic ataxia
- Lower limb hyperreflexia
- Limb ataxia
- Appendicular spasticity
- Lower limb spasticity
- Upper limb hyperreflexia
- Spastic paraplegia
Also known as: SPG76; autosomal recessive spastic paraplegia 76