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Diseases

Genetic and Rare Diseases Information Center (GARD)

Troyer syndrome


Other Names for this Disease
  • SPG20
  • Spastic paraparesis, childhood-onset, with distal muscle wasting
  • Spastic paraplegia, autosomal recessive, Troyer type
  • Autosomal recessive spastic paraplegia type 20
  • Spastic paraplegia 20, autosomal recessive
Related Diseases
  • Hereditary spastic paraplegia - autosomal recessive inheritance
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Overview

Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia.[1][2] Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature.[2][3][1] Symptoms worsen over time, with most people needing a wheelchair by their 50s or 60s.[1][2] Life expectancy is normal.[3] Troyer syndrome is caused by mutations in the SPG20 gene and is inherited in an autosomal recessive manner.[2][3] Treatment is symptomatic and supportive.[1]
Last updated: 12/8/2015

References

  1. Troyer Syndrome Information Page. NINDS. January 3, 2012; http://www.ninds.nih.gov/disorders/troyer_syndrome/troyer_syndrome.htm.
  2. Troyer syndrome. Genetics Home Reference. January, 2008; http://ghr.nlm.nih.gov/condition/troyer-syndrome.
  3. Patel H, Harlalka G & Crosby A. Troyer syndrome. GeneReviews. August 4, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1382/.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Troyer syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SPG20
  • Spastic paraparesis, childhood-onset, with distal muscle wasting
  • Spastic paraplegia, autosomal recessive, Troyer type
  • Autosomal recessive spastic paraplegia type 20
  • Spastic paraplegia 20, autosomal recessive
Related Diseases
  • Hereditary spastic paraplegia - autosomal recessive inheritance
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.