Case of Friedreich Ataxia: Affecting 3 Members of a Family

Friedreich's ataxia (FA) is an autosomal recessive inherited disorder, characterised by degeneration of the sensory neurons in the spinal cord, posterior column (tract of Gall and Burdach), pyramidal tracts. We report a case of 13 year old girl, known case of type 1 diabetes mellitus, with progressive difficulty in walking, absent deep tendon reflexes in bilateral lower limb, bilateral extensor plantar, scoliosis, pes cavus deformity, T inversion in inferior limb leads and with normal fundus and other lab investigation. Her EMG-NCV study showed axonal and demyelinating neuropathy in lower limb with gene analysis testing for frataxin showing homozygous GAA repeat (60 in number) confirming the diagnosis of Friedreich's ataxia. On eliciting the family history similar complaints were also present in 2 out of 3 siblings of the patient.