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Spastic paraplegia-optic atrophy-neuropathy syndrome

Disease definition

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

ORPHA:320406

  • Synonym(s):
    • Autosomal recessive spastic paraplegia type 68
    • SPG68
    • SPOAN
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.4
  • OMIM: 609541
  • UMLS: C1836010
  • MeSH: -
  • GARD: -
  • MedDRA: -

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