A case report on friedreich ataxia in a tertiary care teaching hospital

Friedreich ataxia (FA) is a progressive neurodegenerative disorder and is characterized by an autosomal recessive trait inducing spinocerebellar ataxia. It is the most common autosomal recessive ataxia affecting one individual in 50,000 with an estimated carrier prevalence of about 1:110. Initial symptoms usually seen in children and teenagers include loss of balance, coordination and fatigue. As the disease progresses patient develop dysarthria, vision and hearing loss, cardiomyopathy and diabetes. Scoliosis is often seen early in the disease and a significant proportion of patients need surgical correction. The two major complications of FA are cardiomyopathy and diabetes mellitus. In the present case A female patient of age 19 years with chief complaints of weakness in both lower limbs, difficulty in walking since 3 ½ years and mild swelling while walking since 3 years, difficulty in climbing stairs. The patient is unable to stand and walk without support. The patient had scoliosis to the right side. Unlike usual presentation of friedreich ataxia, this patient had no difficulty in hearing, no visual abnormalities. Patient was advised with rehabilitation and capsule Rejunex.