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!

Mnemonic: Friedreichs FRIEDS! 

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