The diagnosis of Friedreich's ataxia can be difficult. Filla et al listed the levels of certainty for its diagnosis based on the available evidence. the authors are from the University of Naples, University of Siena, and Institute of Experimental Medicine and Biotechnology in Italy.
Level of Certainty
Requirement
definite
molecular evidence of GAA expansion
probable
meets the criteria of Harding et al OR the QCSFA
possible
lower limb areflexia AND (dysarthria OR Babinski sign OR ECG repolarization abnormalities)
possible
retained lower limb reflexes AND ECG repolarization abnormalities
where:
• QCSFA = Quebec Cooperative Study on Friedreich's Ataxia
• Certainty in the diagnosis might be greater if both the Harding and QCSFA criteria are met.
• Repolarization abnormalities on ECG include nonspecific ST segment changes and/or T wave inversion.
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