Orphanet: Autosomal recessive spastic paraplegia type 28
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Autosomal recessive spastic paraplegia type 28

Disease definition

Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.

ORPHA:101008

Classification level: Disorder
  • Synonym(s):
    • SPG28
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent
  • ICD-10: G11.4
  • ICD-11: 8B44.01
  • OMIM: 609340
  • UMLS: C1836295
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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

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