ABSTRACT
CASE PRESENTATION A 78-year-old woman presented with a 4-year history of dizziness when looking up (without vertigo) and loss of balance. In the last year she had developed numbness in her hands and feet. Her fine motor skills had deteriorated, with difficulty buttoning, doing needlework, and sewing. She was told that she had a cardiac arrhythmia, but no evidence of heart enlargement or failure. Her family history was significant for two of four sons with Friedreich’s ataxia (one with onset at age 38 years and a triplet repeat expansion of 275, and the other with symptom onset at age 40 years); a third has diabetes. The patient’s husband had a history of schizophrenia and was not in contact with the family. There was no history of consanguinity.
