Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

CNS functions that show change across short periods of time are particularly useful clinical endpoints for Friedreich ataxia. This study determined whether there is measurable acoustical change in the dysarthria associated with Friedreich ataxia across yearly intervals. A total of 29 participants diagnosed with Friedreich ataxia were recorded across 4 years at yearly intervals. A repeated measures ANOVA was used to determine which acoustic measures differed across time, and pairwise t tests were used to assess the consistency of the change across the time intervals. The relationship between the identified measures with perceptual severity was assessed with stepwise regression. Significant longitudinal change was observed with four measures that relate to the utterance duration and spectral changes in utterances. The spectral measures consistently detected change across time intervals of two or more years. The four measures combined moderately predicted perceptual severity. Together, the results implicate longitudinal change in speaking rate and utterance duration. Changes in speech associated with Friedreich ataxia can be measured across intervals of 2 years and therefore show rich potential for monitoring disease progression and therapy outcomes.
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PMID:Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint. 2266 53