Spastic paraplegia 11
Other Names for this Disease
- Hereditary spastic paraplegia mental impairment and thin corpus callosum
- Autosomal recessive spastic paraplegia type 11
- Hereditary spastic paraplegia 11
- Nakamura Osame syndrome
- Hereditary spastic paraplegia - autosomal dominant inheritance
- Hereditary spastic paraplegia - autosomal recessive inheritance
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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. 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. SPG11 is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive fashion. Treatment is focused on managing symptoms and may include physical therapy and antispastic medications to prolong muscle control.Spastic paraplegia 11 (SPG11) is a form of
Last updated: 5/31/2016
- 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.
- Stevanin G, Durr A, Brice A. Spastic paraplegia 11. GeneReviews. January 31, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1210/.
- Martha A. Nance. Hereditary Spastic Paraplegia. NORD. 2013; http://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
- Spastic paraplegia type 11. Genetics Home Reference. 2009; https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11. Accessed 5/31/2016.
- Genetics Home Reference (GHR) contains information on Spastic paraplegia 11. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on hereditary spastic paraplegia in general. To view the information page click on the link above.
- The National Institute of Neurological Disorders and Stroke offers information on hereditary spastic paraplegia. Click on the link above to view the information page.
- The Univeristy of Michigan's Fink Laboratory Web site offers further information on hereditary spastic paraplegia. Click on the link above to view the information page.
- The Washington University, St. Louis Neuromuscular Disease Center provides an outline on spastic paraplegia 11. Click on the link above to view the information page.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spastic paraplegia 11. Click on the link to view a sample search on this topic.