Autosomal recessive spastic paraplegia type 11

Orpha code: 2822OMIM code: 604360

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.

Disease data
Classification

Disease

Synonyms
Nakamura-Osame syndrome
Paraplegia spastyczna - niepełnosprawność intelektualna - cienkie ciało modzelowate
SPG11
Zespół Nakamura i Osame
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
ORPHA code
2822
OMIM code
604360
ICD10 code
G11.4
ICD11 code
8B44.01

No additional description.

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