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maternally-inherited spastic paraplegia

Disease Summary
Associated Targets ()

Mondo Description 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 Term and Equivalent IDs
MONDO:0017917:  maternally-inherited spastic paraplegia
Orphanet:320360: