Orphanet: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

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Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Disease definition

A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive complex SPG due to Kennedy pathway dysfunction
    • Autosomal recessive spastic paraplegia type 81
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.4
  • OMIM: 618768
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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