hereditary spastic paraplegia 5A

A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.

Signs and symptoms

• Spastic gait
• Lower limb spasticity
• Hyperreflexia
• Impaired vibration sensation in the lower limbs
• Babinski sign
• Lower limb muscle weakness
• Urinary incontinence
• Impaired distal proprioception
• Dysarthria
• Hyperintensity of cerebral white matter on MRI

Also known as: SPG5A; autosomal recessive spastic paraplegia 5A; autosomal recessive spastic paraplegia type 5A