Friedreich’s ataxia, a spinocerebellar degeneration, is an autosomal recessive disease of the cerebellum, spinal cord, and peripheral nerves. Symptoms generally begin before puberty and include an ataxic gait, dysarthria, loss of reflexes, and variably nystagmus, kyphoscoliosis, and pes cavus. Heart disease usually develops, death often resulting from heart failure or dysrhythmia. Diabetes occurs in about one third of patients. Most are wheelchair bound within 15–20 years of the onset.

Nikolaus Friedreich described the disease in 1863.¹ He described six patients in two families.² He added three other patients in the 1876/1877 papers.³ A typical patient, Charlotte L, aged 49, had had symptoms from the age of 18 and was admitted to hospital in 1862. By 1876 she could not walk; she showed nystagmus, nodding tremor of the head, poor balance, and kyphoscoliosis. Her legs were paralysed, the feet in equinovarus; sensation in the legs was impaired.

Friedreich found:

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