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Why Studying Rare Diseases Is So Important: Do You Know of This Disease?

- Federica Lupoli and Annalisa Pastore

I have a disease with a difficult name: Friedreich's ataxia. For simplicity, we will abbreviate this name to FRDA. Ataxia means the loss of full control of body movement. It affects balance, coordination, and speech. There are different forms of ataxia. The form of ataxia that I have was named after Nikolaus Friedreich, a German medical doctor, who was the first to diagnose the disease between 1863 and 1877 in five patients who were initially believed to have other diseases that have similar (but not identical) symptoms.
First, let me reassure you: FRDA is not an infectious disease, meaning that you cannot catch it from another person like you can catch the flu or measles. FRDA is a disease that I have inherited from my parents and that I could transmit to my children. What I mean is the following: as you may know, a baby inherits half of its genetic information (on whether it will have blue or brown eyes, blonde or brown hair, how intelligent it will be, etc.) from the mother and half from the father. This information is called genetic because it is stored in some tiny entities called genes.

License information: CC BY 4.0
MPAA: PG
Go to source: https://kids.frontiersin.org/article/10.3389/frym.2017.00003

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