Orphanet: Autosomal recessive spastic paraplegia type 55

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Autosomal recessive spastic paraplegia type 55

Disease definition

Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.


Classification level: Disorder
  • Synonym(s):
    • SPG55
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 615035
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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