EC Clinical and Medical Case Reports

Friedreich's ataxia is a recessive hereditary degenerative disorder caused by a mutation in the FXA gene, which encodes for frataxin. It manifests through balance and coordination problems, joint issues, cardiac involvement, and sometimes diabetes. We present the case of a 9-year-old child diagnosed with hypertrophic cardiomyopathy, which led to the diagnosis of Friedreich's ataxia. This child, from a consanguineous marriage, had difficulty walking, accompanied by dyspnea, fatigue, and ventricular tachycardia for one year. Clinical examination revealed a heart murmur, speech disorders (dysarthria), and neurological signs (sensory loss and absent reflexes). Genetic testing confirmed mutations in the FXA gene, as well as metabolic abnormalities (low carnitine and vitamin D levels). Treatment included Avlocardyl, Levocarnil, and physical therapy.

 Keywords: Friedreich's Ataxia; FXA Gene; Frataxin; Hypertrophic Cardiomyopathy

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