Friedreich Ataxia Flashcards
1
Q
What is the cause of Friedreich ataxia?
A
Homozygous GAA triplet repeat expansion in the frataxin gene
2
Q
What does the clinical phenotype consistently involve?
A
Gait and limb, ataxia, dysarthria and loss of lower limb reflexes
3
Q
What systems does FRDA affect?
A
Peripheral nervous systems, muscularoskeletal system, the myocardium, and the endocrine pancreas
4
Q
When do symptoms typically start?
A
Between the ages of 10 and 16 years
5
Q
How does FRDA affect the heart?
A
The disease is strongly associated with cardiomyopathy, and it is thought that cardiac wall abnormalities are present in the majority of patients.
