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Maternally-inherited spastic paraplegia

rare

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

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