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Spastic paraplegia type 2

Disease definition

A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.

ORPHA:99015

Classification level: Disorder
  • Synonym(s):
    • SPG2
    • Spastic gait type 2
    • Spastic paraparesis type 2
    • X-linked spastic paraplegia type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 312920
  • UMLS: C1839264
  • MeSH: C536857
  • GARD: 4923
  • MedDRA: -

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