Geoffroy et al evaluated a group of Canadian patients with Friedreich's ataxia and developed criteria for its diagnosis. The authors were members of the Quebec Cooperative Study on Friedreich's Ataxia, or QCSFA.
Primary clinical findings (required for diagnosis):
(1) age of onset before the end of puberty (<= 20 years of age)
(2) progressive ataxia of gait
(3) dysarthria
(4) loss of joint position or vibration sense
(5) absent tendon reflexes in the legs (lower limb areflexia)
• The population study was relatively homogeneous, being descendents of a small number of affected families.
• Some features like dysarthria may only appear several years after the clinical onset, leaving some uncertainty when diagnosing cases soon after onset.
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