Friedreich’s Ataxia-A Case Report

Abstract

Friedrich’s ataxia (FA) is an autosomal recessive disorder. It is the most common cause of inherited ataxia. It affects approximately 1-2 persons per 100,000 population.[i] It occurs due to a mutation that results in the homozygous expansion of Guanosine Adenine Adenine trinucleotide (GAAT) repeat units in intron 1 of FRATAXIN gene in chromosome 9.[ii]^,[iii] Its pathophysiology can be explained by “Dying back phenomenon”; progressive damage to axons with ultimate neuronal death, mostly in spinal cord but can also involve cranial nerves VII, X and XII.[iv] Apart from neurological manifestations cardiomyopathy[v]^,[vi] and endocrine pathologies also occur which contribute to a worsened prognosis of the disease i.e. within 15-20 years of onset, patient becomes wheel chair bound and has a shortened life expectancy. Cardiac pathologies are the most common cause of death in Friedreich’s ataxia.²