Uncoordinated movements, impaired speech caused by muscle weakness, diabetes and cardiomyopathy: Friedreich’s ataxia hits hard and early. This neurodegenerative orphan disease, for which no treatment exists, generally manifests between the ages of 5 and 15, initially affecting walking.
Occurring in 1 in 30,000 people, the disease is rare. To identify the best ways of monitoring its progression, a research network has been created. CHUM neurologist Antoine Duquette and his colleagues at the Centre de réadaptation Lucie-Bruneau are collaborating in an international study directed by Dr. David R. Lynch of the Children’s Hospital of Philadelphia.
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