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Autosomal recessive spastic paraplegia type 25

Disease definition

Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.

ORPHA:101005

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spastic paraplegia-disc herniation syndrome
    • SPG25
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G11.4
  • ICD-11: 8B44.01
  • OMIM: 608220
  • UMLS: C2936860
  • MeSH: C536861
  • GARD: 9582
  • MedDRA: -

  A summary on this disease is available in Deutsch (2016) Español (2016) Italiano (2016) Nederlands (2016) Polski (2016, pdf)

Detailed information

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Disability

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

Additional information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.