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April 1982

Dispute Diagnosis of Friedreich's Ataxia-Reply

Author Affiliations

Tel Aviv, Israel

Arch Otolaryngol. 1982;108(4):262. doi:10.1001/archotol.1982.00790520062019

In Reply.—The diagnosis of Friedreich's ataxia in the family described in our article was firmly established by a group of neurologists. We have not mentioned all the physical signs observed in our patients. For example, a woman aged 30 years (case 4, Table 1) is suffering from severe scoliosis and from cardiomyopathy (precordial pain, arrhythmia, and abnormal ECG). Her father is hypertensive and her grandfather died of heart disease at the age of 44 years. Two children (cases 7 and 9, Table 1) have scoliosis, and in one of them (case 7), surgical correction is contemplated.

The atypical genetic pattern in the family described by us bears resemblance to that described by Harding and Zilka1 and cited by Harding.2 Additional members of this family are affected—two living sisters of the deceased grandfather of patient 4 and some of their offsprings. This branch of the family is living