Learn About Spinocerebellar Ataxia Type 3

What is the definition of Spinocerebellar Ataxia Type 3?
Spinocerebellar ataxia 3 (SCA3) is a rare, inherited form of ataxia. Signs and symptoms may begin between childhood and late adulthood and vary greatly. Symptoms may include slowly progressive clumsiness in the arms and legs; a manner of walking (gait) that may be mistaken for drunkenness; difficulty speaking and swallowing; impaired eye movements or vision; and lower limb spasticity. Some people with SCA3 develop dystonia or symptoms similar to those of Parkinson's disease; twitching of the face or tongue; nerve damage (neuropathy); or problems with urination and the autonomic nervous system. SCA3 is caused by a genetic change in the ATXN3 gene and inheritance is autosomal dominant.
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What are the alternative names for Spinocerebellar Ataxia Type 3?
  • Spinocerebellar ataxia 3
  • Azorean neurologic disease
  • MJD
  • Machado-Joseph disease
  • Nigrospinodentatal degeneration
  • SCA3
  • Spinocerebellar atrophy type 3
  • Spinopontine atrophy
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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