Friedreich’s ataxia is a crippling neurological disorder that affects about 1 in 30,000 individuals, making it the most common of the inherited gait disorders, or ataxias.

While there would be fewer than 130 patients in the greater metropolitan Melbourne area, population 3.85 million, by the peculiar calculus applying to autosomal recessive disorders, there would be around a dozen carriers on every crowded commuter train entering Melbourne’s City Loop during the morning rush. The mutant allele’s frequency in Western populations is around 1 in 90.

Associate Professor Martin Delatycki has seen more than 100 Friedreich’s patients during his monthly clinics at Monash Medical Centre – at his most recent clinic, only one patient was from Victoria; the rest from interstate and overseas.

Delatycki is a clinical geneticist director of the Bruce Lefroy Centre for Genetic Health at Melbourne’s Murdoch Childrens Research Institute, and specialises in diagnosing and treating the disorder.

The first symptoms of Friedreich’s ataxia typically manifest in childhood, between the ages of five and 15. Patients develop progressive weakening of the muscles of the arms and legs, lose coordination and develop an unsteady gait. Curvature of the spine, and deformed feet, eventually force them into a wheelchair. Hearing and vision may deteriorate, speech becomes slurred, and they develop cardiomyopathy and an irregular heartbeat.

Diagnosis is straightforward enough, but until recently there was no effective treatment for patients with the progressive, invariably fatal disorder.

Today, however, there is light on the therapeutic horizon – actually, three lights. Delatycki says three drugs are in clinical trials overseas which approach the underlying metabolic defect in Friedreich’s ataxia from different and potentially complementary directions.

Delatycki described his research at the annual scientific meeting of the Human Genetics Society of Australia in Adelaide recently.