FRIEDREICH’S ATAXIA: PRESENTATION OF A CASE

Dr. P. S. Jirvankar; Dr. Kailas Chintale; Dr. Mayur Nandwalkar; Dr. Rohit Walse

Volume : VI, Issue : VIII, August - 2016

FRIEDREICH’S ATAXIA: PRESENTATION OF A CASE

Dr. P. S. Jirvankar, Dr. Kailas Chintale, Dr. Mayur Nandwalkar, Dr. Rohit Walse

Abstract :

Friedreich’s ataxia is rare genetic disorder with autosomal recessive inheritance. It is suspected with its clinical presentation and trinucleotide repeats. We present A 24 years old male patient who was admitted in this hospital for complaints of ataxia, dysarthria and dysphagia since 5 years. Patient also had chest pain, palpitations, eathlessness, titubation, pes equino varus, bilateral lower limb muscle atrophy, cardiomyopathy, staggering gait. After investigating and thorough examination a diagnosis of Friedreich’s ataxia was made.