Friedreich's ataxia. Report of three cases carried out by the Cuban Medical Brigade in Bolivia

Abstract

Friedreich's ataxia is a rare hereditary disease, monogenic, that affects the muscles and heart, which is transmitted as an autosomal recessive trait. The case of a family where three of its members were affected by the disease, with presence of gait difficulty, foot deformities, loss of tendon reflexes, visual disturbances of the nystagmus type, dysarthria and arrhythmias were presented. Clinical diagnosis from the integrated work of specialists of the Cuban Medical Brigade in Bolivia. The clinical diagnosis was complemented with the results of interconsultations performed by echocardiographic and ophthalmologic studies. Genetic counseling was then offered to the family and patient follow-up was ensured based on clinical findings and complications.