Autosomal recessive spastic paraplegia type 11
Synonyms: 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Autosomal recessive spastic paraplegia type 11?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
Clinical Trials
For a list of clinical trials in this disease area, please click here.