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Autosomal recessive spastic paraplegia type 39

Disease definition

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.


  • Synonym(s):
    • SPG39
    • Spastic paraplegia due to NTE mutation
    • Spastic paraplegia due to neuropathy target esterase mutation
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 612020
  • UMLS: C2677586
  • MeSH: -
  • GARD: 4924
  • MedDRA: -

Detailed information

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Additional information

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