Orphanet: Autosomal recessive spastic paraplegia type 32
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Autosomal recessive spastic paraplegia type 32

Disease definition

Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.

ORPHA:171622

Classification level: Disorder
  • Synonym(s):
    • SPG32
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 611252
  • UMLS: C1970009
  • MeSH: -
  • GARD: 12749
  • MedDRA: -

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

Detailed information

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Disability

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

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