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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
  • ICD-11: 8B44.01
  • OMIM: 604360
  • UMLS: C2931821
  • MeSH: C537483  C538335
  • GARD: 4919
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Detailed information

General public

Disease review articles

Disability

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.