Conditions / Genetic
hereditary spastic paraplegia 87
info · Genetic
A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3.
Signs and symptoms
- Mild intellectual disability
- Babinski sign
- Lower limb hyperreflexia
- Spastic gait
- Lower limb spasticity
- Delayed gross motor development
- Hyperreflexia
- Lumbar hyperlordosis
- Delayed speech and language development
- Strabismus
Also known as: SPG87; autosomal recessive spastic paraplegia 87