case report of friedreich ataxia (frda)

index case is 17 years old girl with ataxia of gait since 3 years ago. she has been walking normally in past. sensory is normal in her legs. ocular movements are normal. she has mild scoliosis. her electrocardiogram shows t-wave inversions. her parents are cousins& asymptomatic. she has 5 brothers & 3 sisters. one of her brothers & one of her sisters are wheelchair dependent. their history is similar, but onset of disease was different. the dna from blood sample was investigated by polymerase chain reaction method for the gaa expansion repeats in the frda gene. gaa trinucleotide repeats more than 66 found in her sample. friedreich ataxia (frda) is an autosomal recessive disorder & the most common early–ataxia. the essential clinical features are juvenile onset with progressive ataxia of gait and limps, absent tendon reflexes and extensor plantar responses. frda is due to a deficiency of frataxine caused by gaa intronic expansion normal chromosomes have fewer than 42 triplet and disease chromosomes have 66 to more than 1700 repeats.