maternally-inherited spastic paraplegia
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.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
MT-ATP6-related mitochondrial spastic paraplegia
exact
maternally-inherited SPG
exact