MT-ATP6-related mitochondrial spastic paraplegia
Synonyms: Maternally-inherited SPG | Maternally-inherited spastic paraplegia
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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MT-ATP6-related mitochondrial spastic paraplegia?
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