Autosomal recessive spastic paraplegia type 11


Engelsk navn: Autosomal recessive spastic paraplegia type 11
Engelske synonym: Nakamura-Osame syndrome,SPG11,Spastic paraplegia-intellectual disability-thin corpus callosum syndrome


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.



Informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.

ORPHA: 2822
Klassifiseringsnivå: Disorder
ICD-10: G11.4



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