Friedreich’s ataxia is a hereditary spinocerebellar degenerative disorder named after German neurologist, Professor Nicholaus Friedreich.
Mnemonic: FRIEDREICH’S Ataxia
1. Foot deformity (progressive cavo-varus), Frataxin expression reduced
2. Recessive (autosomal), Repeat of trinucleotide GAA (chromosome 9)
3. Iron accumulation in mitochondria
4. Extensor plantar response
5. Dysarthria (within 5 years of onset), Dorsal column involvement, Diabetes mellitus
6. Reflexes (DTR) absent
7. Early onset (within 25 years of age)
8. Incoordination
9. Cerebellar and Corticospinal tract involvement
10. Hypertrophic cardiomyopathy
11. Scoliosis
12. Ataxia (progressive)