Abstract

Shashikumar V. L.*, Ruchira M., S. Sangeetha, Shobha Rani R. H.

ABSTRACT

Nikolaus Friedreich originally discussed Friedreich's ataxia (FRDA) in 1863. FRDA is a rare, inherited (autosomal recessive), neurodegenerative movement disorder, resulting from a mutation (expanded guanine-adenine-adenine (GAA) triplet repeats) in the frataxin (FXN) gene on chromosome 9q centromere region which presents with ataxic gait, absent tendon reflexes, extensor plantar response (Babinski sign) and positive Romberg test. A 34 years old male patient came with complaints of involuntary movements of head (titubation), tinnitus from 12 years, progressive ataxia of gait, and dysarthria since 8 years since. He is a k/c/o Friedrichs ataxia since 8 years. He have associated newly diagnosed endocrine abnormality diabetes mellitus. No effective treatment for FRDA exists, multiple therapies are being developed to increase frataxin levels, such as protein and gene replacement therapies, antioxidants, iron chelators, and inflammation modulators. Symptomatic treatment can be provided to improve quality of life.