Accept Cookies?
Provided by OpenGlobal E-commerce

Please wait while your page loads ...

Friedreich's ataxia: Past, present and future

Friedreich's ataxia (FRDA) is an autosomal recessive inherited disorder characterized by progressive gait and limb ataxia, dysarthria, areflexia, loss of vibratory and position sense, and a progressive motor weakness of central origin. Additional features include hypertrophic cardiomyopathy and diabetes. Large GAA repeat expansions in the first intron of the FXN gene are the most common mutation underlying FRDA. Patients show severely reduced levels of a FXN-encoded mitochondrial protein called frataxin.

Friedreich's ataxia: Past, present and future


Event H.jpg


Archived in
  Scientific News



Tagged in
FARA Scientific News

Site Map     Privacy Policy     Service Terms     Log-in     Contact     Charity Navigator