Orphanet: Autosomal dominant spastic paraplegia type 31

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Autosomal dominant spastic paraplegia type 31

Disease definition

A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.


Classification level: Disorder
  • Synonym(s):
    • SPG31
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 610250
  • UMLS: C1853247
  • MeSH: -
  • GARD: 10817
  • MedDRA: -

Detailed information

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