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Autosomal recessive spastic paraplegia type 14

Disease definition

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

ORPHA:100995

  • Synonym(s):
    • SPG14
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G11.4
  • OMIM: 605229
  • UMLS: C1854568
  • MeSH: C537486
  • GARD: 9589
  • MedDRA: -

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