Tag: rare disease

  • An Ounce of Prevention?

    How much impact would SCA prevention make? I have developed a web-based tool to help look at the question. DNA testing has been available up through SCA3 since 1995. I think this influenced some people’s approaches to family planning—at least, it did mine; I was tested in 1996. If you know the disease is genetic…

  • Rarity Again (Neurologists)

    As we know, though some deny it, the prevalence of spinocerebellar ataxia (SCA) is upwards of 5 per 100,000, or about 16,100 in the U.S. in 2015. Consider this: There are about 16,366 neurologists in the U.S.—about 5.1 per 100,000 (There are about 915,000 doctors in the U.S.—about 280 per 100,000) https://www.aan.com/PressRoom/home/PressRelease/1178 https://www.kff.org/other/state-indicator/total-active-physicians/ The prevalence…

  • Prevalence and Incidence of Rare Diseases

    I’ve now come close to doing something I thought was impossible in my first post, which is knowing where the prevalence of ataxia stands among a list of other rare diseases. I was drawn to this PDF because of the prevalence and incidence information it contains on 3,064 rare diseases, and I have made the…