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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spinocerebellar ataxia 11


Other Names for this Disease
  • SCA11
  • Spinocerebellar ataxia type 11
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Overview

Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. In them, age of onset ranged from the early teens to the second decade of life and life span was normal. Diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (mutation) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.[1]
Last updated: 8/11/2015

References

  1. Houlden H. Spinocerebellar Ataxia Type 11. GeneReviews. March 7, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1757/. Accessed 8/11/2015.
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Basic Information

In Depth Information

  • 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 Spinocerebellar ataxia 11. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SCA11
  • Spinocerebellar ataxia type 11
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.