Resumo

ORTIZ VASQUEZ, Solange Daniela  e  ROJAS MITA, Carla Alejandra. Ataxia de Friedreich. Rev. Act. Clin. Med [online]. 2014, vol.45, pp. 2373-2377. ISSN 2304-3768.

ABSTRACT The condition known as Friedreich's ataxia, is an inherited disorder characterized by the degeneration of nerve tissue due to progressive damage caused therein, thereby affecting the spinal cord and nerves that control movement of lower and upper limbs, although the former are the most affected. People affected with this disease present symptoms at very early ages, naming this presentation as typical Friedreich's ataxia, unlike when atypical symptoms begin after fifties. Among the most important symptoms include loss of balance and coordination, muscle weakness, difficulty in articulating words, deafness and visual impairment, lower extremity with diminished reflexes, plus typical deformities like claw toes. Diagnoses as well as treatment, both are complex because it is due to a degenerative disease and there is no specific therapy for this. However, they have developed various types of treatments to somehow get affected patients have a life more bearable as possible, by administering drugs or performing various exercises performed by the patient to prevent early muscle wasting

Palavras-chave : Friedreich's ataxia; Spinocerebellar degeneration; Frataxin.