Despite being diagnosed with Spinocerebellar Ataxia Type 1 in 2015, the more I learn about this disease, the more difficult it gets to explain.
Technically, “ataxia” is defined as a symptom of imbalance. If you have Parkinson’s, MS, etc. you probably have ataxia. However, hereditary Ataxia is a rare, genetic, neurological disease. It is progressively debilitating – limiting a person’s ability to walk, talk, and use fine motor skills more and more over time – largely due to degeneration of the cerebellum (the part of the brain that is responsible for coordinating movement). Complications from the disease are serious, chronic, and oftentimes life-shortening.
There are several variants of hereditary Ataxia – Spinocerebellar (SCA), Episodic, & Friedrich’s (FA) being the major ones – depending on whether the disease was dominantly or recessively inherited. Within that diagnosis, there are over 40 types of SCA and eight Episodic, based on which specific gene is affected. Therefore, experiences with this disease vary tremendously; even two people with SCA1 may have different symptoms and progression rates depending on personal factors.
There is currently no known cure for any type of Ataxia, but you can help find one by donating here.
The most accurate form of diagnosis is through a blood test with genetic screening. Diagnosis can also come from an MRI that shows deterioration of the cerebellum, though this can’t confirm the specific type. Since it is a genetic condition, family history is often essential in the diagnosis process.
Learn about my specific type of Ataxia (Spinocerebellar Type 1) below. Click the image to open a pdf version with bigger font.
Learn more about this disease by reading any SCA Post on this blog – the one regarding International Ataxia Awareness Day is particularly informative. I also encourage you to visit the National Ataxia Foundation website, which is where a lot of this information is from.