International Clinical and Medical Case Reports Journal (ISSN: 2832-5788) | Volume 3, Issue 8 | Case Report | Open Access DOI
Prashant Kumar Verma*
Krishna Charan G, Prashant Kumar Verma*, Sachin Kumar, Rahul Karthik, Ashwin Dalal Department of Pediatrics, All India Institute of Medical Sciences- AIIMS, Rishikesh, India
*Correspondence to: Prashant Kumar Verma
Fulltext PDFFriedreich's ataxia (FA) is a debilitating neurodegenerative disorder characterized by progressive gait and limb ataxia, dysarthria, and cardiomyopathy. It is inherited as an autosomal recessive disease. Friedreich ataxia (FA) is the most common hereditary ataxia accounting for approximately 50% of all ataxia cases [1,2,3,4]. Unfortunately, symptoms worsen as time progresses, so most people affected by this disease end up requiring mobility aids such as wheelchairs, lose their vision and hearing, and develop other medical complications such as diabetes mellitus and scoliosis. This case report emphasis mainly on the unusual case of ataxia affecting the whole family (both children and mother being Carrier, Father expired due to some chronic medical illness) and detection of the Illness which was affecting them and genetic analysis suggesting of FA. This also reviews the evaluation and management of Friedreich ataxia and highlights the role of the interprofessional team in the care of patients with this condition.
Friedreich's ataxia (FA); Vision; Hearing
Krishna Charan G, Prashant Kumar Verma, Sachin Kumar, Rahul Karthik, Ashwin Dalal. Case Report: Friedrich Ataxia Friedreich's Ataxia’s Paradigm in Nuclear Family in Northern India. Int Clinc Med Case Rep Jour. 2024;3(8):1-5.