Conditions / Genetic
hereditary spastic paraplegia 72A
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2.
Signs and symptoms
- Babinski sign
- Lower limb hyperreflexia
- Spastic gait
- Spasticity
- Muscle stiffness
- Spastic paraplegia
- Tip-toe gait
- Hoffmann sign
- Pes cavus
- Urinary bladder sphincter dysfunction
Also known as: SPG72