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Autosomal recessive spastic paraplegia type 27

Disease definition

Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.

ORPHA:101007

Classification level: Disorder
  • Synonym(s):
    • SPG27
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult, Adolescent
  • ICD-10: G11.4
  • OMIM: 609041
  • UMLS: C1836899
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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