Here's another notes + mnemonic post on Friedreichs Ataxia
- 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.
- 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
- Ataxia of trunk and limb movements.
- Loss of proprioception and vibratory sense.
- Extensor plantar response, absence of deep tendon reflexes and weakness is found.
Mnemonic: Friedreichs FRIEDS!