Title: Friedreich’s Ataxia with Type I Diabetes and Cardiomyopathy in an Adolescent Girl- A Rare Case Study
Authors: Dr Upasana Patra, Dr Chinmayee Mohanty, Dr Budhia Majhi, Dr Lal mohan Alada
DOI: https://dx.doi.org/10.18535/jmscr/v9i1.21
Abstract
Friedreich’s ataxia is an autosomal recessive spinocerebellar ataxia involving neuromuscular and endocrine system. Usual presentation include progressive gait ataxia, absent deep tendon reflexes, extensor plantar response, cerebellar dysarthria, optic atrophy, neuropathy and loss of proprioception and vibration . Only few reports have documented the disease onset in childhood , so we are presenting a case of 13year female child with progressive unsteadiness of gait , increased urination, appetite, thirst which was ultimately diagnosed to have friedreich’s ataxia with associated diabetes and cardiomyopathy. Currently, no definitive therapy is available. Screening, evaluation awareness of underlying endocrinopathies in friedreich’s ataxia may provide new therapeutic targets for preventing Friedreich’s ataxia associated cardiac dysfunction.
Keywords: Friedreich’s ataxia; cerebellar dysarthria; cardiomyopathy; endocrinopathy; autosomal recessive.
