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Spastic paraplegia type 7

Disease definition

Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia (see this term) characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.

ORPHA:99013

  • Synonym(s):
    • SPG7
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: G11.4
  • OMIM: 607259
  • UMLS: C1846564  C3711370
  • MeSH: -
  • GARD: 4927
  • MedDRA: -

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