Spastic paraplegia 11

Disease Overview

Spastic paraplegia 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties (dysarthria), and reduced bladder control.[2296] Additionally, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in most individuals with SPG11. Onset of symptoms typically occurs during infancy or adolescence.[2298][11610] SPG11 is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive fashion.[2297] Treatment is focused on managing symptoms and may include physical therapy and antispastic medications to prolong muscle control.[2298]

Synonyms

• SPG11
• Hereditary spastic paraplegia mental impairment and thin corpus callosum
• Autosomal recessive spastic paraplegia type 11
• Hereditary spastic paraplegia 11
• Nakamura Osame syndrome
• Spastic paraplegia - intellectual deficit - thin corpus callosum