Мітохондріальна спастична параплегія, повязана з MT-ATP6

Визначення(English summary)

A rare complex hereditary spastic paraplegia 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.