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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.

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What is this exactly and how does it effect someone?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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 is hereditary spastic paraplegia?

Hereditary spastic paraplegia is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs leading to difficulty walking.  As degeneration continues, symptoms worsen.[3] 
Last updated: 1/31/2013

What are the signs and symptoms of spastic paraplegia 11?

Signs and symptoms of spastic paraplegia 11, include:[2][4]

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][4]

Last updated: 4/21/2010

How can I learn more about research for hereditary spastic paraplegias?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. You can find clinical trials for individuals with spastic paraplegias at the following link. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study‚Äôs contact information to learn more. Check this site often for regular updates. 
http://www.clinicaltrials.gov/ct2/results?term=spastic+paraplegias

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you find trials of interest. 

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/

If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the ClinicalTrials.gov Web page. Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.

You can also learn more about current research from the Spastic Paraplegia Foundation.

Spastic Paraplegia Foundation
4 Sherwood Hill Road
Sherman, CT   06784-2001
Tel: 703-495-9261
Fax: 703-495-9261
Email: info@sp-foundation.org
Web site: http://www.sp-foundation.org

Last updated: 10/18/2013

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 11/27/2014

References
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.