Sunday, December 11, 2016

Friedreichs Ataxia notes and mnemonic

Here's another notes + mnemonic post on Friedreichs Ataxia

Genetic stuff:
- Due to mutated frataxin gene
- GAA trinucleotide repeats
- Autosomal recessive
- Mitochondrial iron accumulation due to loss of iron transporter coded by frataxin gene results in oxidized intramitochondrial iron accumulation.

Clinical stuff:
- Cardiomyopathy is the most common cause of death in FA. Cardiomegaly, conduction defects, murmurs, fibrosis are seen.
- Musculoskeletal abnormalities like foot deformities (Hammer toe, pes cavus, pes equinovarus) and scoliosis is seen.
- Diabetes mellitus is seen in 20% of patients

Neurologic stuff:
- Nystagmus
- Titubation
- Dysarthria
- Dysmetria
- Ataxia of trunk and limb movements.
- Loss of proprioception and vibratory sense.
- Extensor plantar response, absence of deep tendon reflexes and weakness is found.

That's all!
Stuff.
-IkaN

Mnemonic: Friedreichs FRIEDS! 

No comments:

Post a Comment

This is express yourself space. Where you type create something beautiful! <3
Wondering what do I write? Well...
Tell us something you know better. You are a brilliant mind. Yes, you are! ^__^
Ask about something you don't understand @_@?
Compliment... Say something nice! =D
Be a good critic and correct us if something went wrong :|
Go ahead. Comment all you like here! (:

PS: We have moderated comments to reduce spam. ALL comments that are not spam will be published on the website.