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How HSP works

Writer's picture: Annie KrollAnnie Kroll
Black and white DNA strand


Hereditary Spastic Paraplegia, or HSP, is a group of genetic disorders that cause progressive weakness and tightness in the legs and hips due to upper motor neuron degeneration. Over 80 genes have been identified that cause symptoms that classify as HSP. The blog writer has a mutation in the SPG4 gene that stops the body from producing spastin. Spastin is a protein that helps keep your muscles elastic, and the mutation affects the hips and downwards. SPG4 mutations also could have a link to autism.

  

Hereditary spastic paraplegia can be passed on through being autosomal dominant, autosomal recessive, or linked through the X chromosome. Autosomal dominant is the most common way for it to be passed on, and it is very rarely linked through the X chromosome. Lastly, HSP can be de novo, a condition where a mutation occurs at conception resulting in a genetic mutation. The author of this paper has a de novo mutation of HSP, with the mutation occurring on the SPG4 gene. The SPG4 gene alone has “over 300 mutations,” or the genetic equivalent of a typo. Autosomal dominant transmissions typically result in a pure HSP, which means that only the lower legs and bladder are at risk of being affected. Autosomal recessive mutations are more at risk for being complicated. This means that not only are the lower legs and bladder at risk for losing muscle mass and function ability, but the arms, brain, and other areas of the body are also at risk of deterioration based on nerve damage. Around 20,000 people have been diagnosed with HSP in the United States, although this number could be deflated due to misdiagnoses. As of late, there are over 90 gene variations that can cause HSP, and more keep being discovered as more research is done.


This blurb about HSP will help to focus the rest of this blog, as this is the lens that I experience physical limitations through. Thank you for reading!


 (Lo Giudice et. al., 2014, p. 521).

(HSP & PLS: Heredity and Genetics, 2002).

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