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Genetic and Rare Diseases Information Center (GARD)

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Spastic paraplegia 11


Other Names for this Disease

  • Autosomal recessive spastic paraplegia type 11
  • Hereditary spastic paraplegia 11
  • Hereditary spastic paraplegia mental impairment and thin corpus callosum
  • Nakamura Osame syndrome
  • Spastic paraplegia - intellectual deficit - thin corpus callosum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is spastic paraplegia 11?

What are the signs and symptoms of spastic paraplegia 11?

What is spastic paraplegia 11?

Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms.[1] The tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in individuals with this condition. Spastic paraplegia 11 is caused by mutations in the SPG11 gene and is passed through families in an autosomal recessive fashion.[2]

Last updated: 4/21/2010

What are the signs and symptoms of spastic paraplegia 11?

Signs and symptoms of spastic paraplegia 11, include:[2][3]

Spasticity (progressive muscle stiffness)
Paraplegia (eventual paralysis of the lower limbs)  
Numbness, tingling, or pain in the arms and legs
Disturbance in the nerves used for muscle movement
Intellectual disability
Exaggerated reflexes of the lower limbs 
Speech difficulties 
Reduced bladder control 
Muscle wasting 

Less common features, include:[2]

Difficulty swallowing 
High-arched feet 
Scoliosis 
Involuntary movements of the eyes

Age at time of symptom onset varies from infancy to early adulthood, with onset in infancy to adolescence being most common. Learning disability may begin in childhood. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance (often 10 to 20 years after symptom onset).[2][3]

Last updated: 4/21/2010

References
  1. Spastic paraplegia 11, autosomal recessive SPG11. Online Mendelian Inheritance in Man. 2010; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604360. Accessed 4/16/2010.
  2. Spastic paraplegia type 11. Genetics Home Reference. 2009; http://www.ghr.nlm.nih.gov/condition=spasticparaplegiatype11. Accessed 4/21/2010.
  3. Stevanin G, Durr A, Brice A. Spastic paraplegia type 11. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=spg11. Accessed 4/21/2010.


Other Names for this Disease
  • Autosomal recessive spastic paraplegia type 11
  • Hereditary spastic paraplegia 11
  • Hereditary spastic paraplegia mental impairment and thin corpus callosum
  • Nakamura Osame syndrome
  • Spastic paraplegia - intellectual deficit - thin corpus callosum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.