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MT-ATP6-related mitochondrial spastic paraplegia

Disease definition

MT-ATP6-related mitochondrial spastic paraplegia is 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.

ORPHA:320360

Classification level: Disorder
  • Synonym(s):
    • Maternally-inherited SPG
    • Maternally-inherited spastic paraplegia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Adult
  • ICD-10: G11.4
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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