[Friedreich's disease. Clinical study of ten cases (author's transl)]

Clinical characteristics of ten patients with Friedreich's disease are presented. Two cases were members of the same family, another patient had a brother with the disease, and in two cases there was consanguinity. The dominant inheritance pattern was absent in all cases. Initial symptoms and clinical signs were present under 5 years of age in six cases, and in three of them under 2 years of age. As reported in other series, in our cases the disorder first appeared in the legs. Other early manifestations included skeletal deformities and dysarthria, as well as diplopia, paresthesias and dizziness. Friedreich's ataxia results from pyramidal tract degeneration and changes in the cerebellum. Babinski sign was present in nine patients. Other findings were: muscular weakness, distal amyotrophy and distal dystonia. Two patients suffered epileptic attacks with typical EEG pattern. Kyphoscoliosis and pes cavum were constant skeletal deformities. ECG revealed signs of myocardial ischemis in nine patients, although none of them had symptomatology of heart disease. Glucose tolerance test carried out in three cases showed diabetic curves. Results of nerve speed conduction were as follows: normal in one case; decreased sensitive speed conduction in four cases, and decrease of both sensitive and motor speed conduction in other four cases. EMG showed signs of chronic denervation in three cases. These results coincide with those published by other authors.