Today I learn... Friederich Ataxia

Friederich Ataxia (FA) is a degenerative disease inherited when both parents are passive carriers of the FXN gene. In the presence of the disease the triplet (GAA) is abnormally repeated. As a consequence some nerves in the spine weaken.

Some of the manifestations of the disease are diabetes, cardiac and motor deficiencies. Is common for individuals with FA to have to use a wheelchair after 10 to 20 years of the onset of the disease.

FA can be diagnosed with different techniques that include: neuroimaging techniques such as fMRI. cognitive mood and speech assessments, clinical test and genetic testing from blood samples.

More info:

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-Fact-Sheet