Friedreich’s Ataxia-A Case Report

  • Tahreem Muntaha Final Year Medical Student Rawalpindi Medical University
  • Saman Saleem Final Year Medical Student Rawalpindi Medical University
  • Sana Qurban Final Year Medical Student Rawalpindi Medical University
  • Mawra Noor Final Year Medical Student Rawalpindi Medical University

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

 

 

 

Published
2018-11-05
How to Cite
1.
Muntaha T, Saleem S, Qurban S, Noor M. Friedreich’s Ataxia-A Case Report. JRMC [Internet]. 5Nov.2018 [cited 5Aug.2020];21(S-1):49-0. Available from: https://www.journalrmc.com/index.php/JRMC/article/view/977