Conditions / Genetic
hereditary spastic paraplegia 18A
info · Genetic
A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11.
Signs and symptoms
- Gait disturbance
- Lower limb spasticity
- Lower limb muscle weakness
- Ankle clonus
- Babinski sign
- Loss of ambulation
- Abnormal foot morphology
- Paresthesia
- Scoliosis
- Upper limb muscle weakness
Also known as: autosomal dominant spastic paraplegia 18; spastic paraplegia 18A