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.1
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 9.2,3
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.4 Apart from
neurological manifestations cardiomyopathy5,6 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