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Autosomal recessive spastic paraplegia type 11

Disease definition

A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.

ORPHA:2822

Classification level: Disorder
  • Synonym(s):
    • Nakamura-Osame syndrome
    • SPG11
    • Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: G11.4
  • OMIM: 604360
  • UMLS: C1858479  C2931821
  • MeSH: C537483  C538335
  • GARD: 4919
  • MedDRA: -

Detailed information

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