Maternally-inherited spastic paraplegia
Maternally-inherited spastic paraplegia
Definition
A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.
Also known as maternally-inherited SPG, MT-ATP6-related mitochondrial spastic paraplegia — per MONDO