Conditions / Genetic
hereditary spastic paraplegia 72B
info · Genetic
A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31.
Signs and symptoms
- Babinski sign
- Lower limb hyperreflexia
- Spastic gait
- Difficulty running
- Spasticity
- Gait disturbance
- Dysarthria
- Gait ataxia
Also known as: autosomal recessive spastic paraplegia 72; spastic paraplegia 72B