Freidrich's ataxia Flashcards
Where does Friedrich’s ataxia occur
CNS - degenerative atrophy of posterior columns of spinal cord
What type of hereditary disorder is FA
Autosomal recessive
Treatment?
Antioxidants
Enhancers of energy metabolism
Iron chelators
Erythropoietin
Immune modulators
HDAG
Repeat targeted nucleic acids
Treatment of associated features
What predicts a faster rate of progression
Early onset and left ventricular hypertrophy
What does reduced frataxin expression lead to
Mitochondrial dysfunction
How long will it be before they can’t walk, stand or sit
10-15 years
What age does this occur in
Childhood
What other issues can present
Diabetes, scoliosis and cardiac problems
Does FA affect speech and swallow
Yes, dysarthria and dysphagia will occur
Do treatments exist to affect the degenerative process
No
What is the main cause of death?
Cardiac failure - congestive heart failure or arrhythmia
Treating what increases survival
Diabetes and cardiomyopathy
Are reflexes present
No, loss of DTRs
Is ataxia present
Yes
