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Maternally-inherited spastic paraplegia
rareA 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.
- Identifiers
- MONDO:0017917 Orphanet:320360
- Also known as
- maternally-inherited SPG · MT-ATP6-related mitochondrial spastic paraplegia
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