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)

Evaluation of therapeutic agents for Friedreich Ataxia (FA) has been limited by a lack of adequate markers of disease progression. We assessed the capacity of health related quality of life (HRQOL) questionnaires to reflect disease status in FA. The SF-36 and several symptom-specific scales were administered to an FA cohort. Scores were compared with norms for the United States population, and to a disease-free control group of similar age and gender. FA patients had significantly lower SF-36 Physical Component Summary scores (PCS) and Physical Functioning Subscale (PFS) scores, and both PCS and PFS scores correlated significantly with disease duration and disability status. Mental Component Summary scores (MCS) did not differ between FA patients and controls. Among symptom-specific scales, scores for the Pain Effects, Bladder Control, and Modified Fatigue Impact scales were significantly worse among FA patients than controls, and generally correlated with markers of disease progression. Findings of this study are consistent with the phenotypic characteristics of FA, and suggest that HRQOL measures are potentially useful as clinical markers of disease status in FA.
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PMID:Health related quality of life measures in Friedreich Ataxia. 1857 73

The fundamental role of coenzyme Q(10) (CoQ(10)) in mitochondrial bioenergetics and its well-acknowledged antioxidant properties constitute the basis for its clinical applications, although some of its effects may be related to a gene induction mechanism. Cardiovascular disease is still the main field of study and the latest findings confirm a role of CoQ(10) in improving endothelial function. The possible relation between CoQ(10) deficiency and statin side effects is highly debated, particularly the key issue of whether CoQ(10) supplementation counteracts statin myalgias. Furthermore, in cardiac patients, plasma CoQ(10) was found to be an independent predictor of mortality. Studies on CoQ(10) and physical exercise have confirmed its effect in improving subjective fatigue sensation and physical performance and in opposing exercise-related damage. In the field of mitochondrial myopathies, primary CoQ(10) deficiencies have been identified, involving different genes of the CoQ(10) biosynthetic pathway; some of these conditions were found to be highly responsive to CoQ(10) administration. The initial observations of CoQ(10) effects in Parkinson's and Huntington's diseases have been extended to Friedreich's ataxia, where CoQ(10) and other quinones have been tested. CoQ(10) is presently being used in a large phase III trial in Parkinson's disease. CoQ(10) has been found to improve sperm count and motility on asthenozoospermia. Moreover, for the first time CoQ(10) was found to decrease the incidence of preeclampsia in pregnancy. The ability of CoQ(10) to mitigate headache symptoms in adults was also verified in pediatric and adolescent populations.
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PMID:Clinical aspects of coenzyme Q10: an update. 1993 99

The use of health-related quality of life scales as outcome measures in clinical trials is increasing. Although such measures have been validated in adults with Friedreich ataxia, they have not been studied in children with this disorder. The health-related quality of life of children with Friedreich ataxia was assessed using the PedsQL 4.0 Generic Core Module and Multidimensional Fatigue Scale. The scores from the Friedreich ataxia cohort were compared to those of control groups (children without a chronic disease). Minimal missing responses support the feasibility of using the PedsQL 4.0 in the Friedreich ataxia population. The scales demonstrated internal consistency, and concordance was observed between child and proxy scores. Children with Friedreich ataxia and their proxies reported lower health-related quality of life than did controls in the Core and Fatigue scales. A modest relationship was seen between markers of disease status and health-related quality of life, providing support for the idea that children with Friedreich ataxia have a lower health-related quality of life than those without a chronic disease. Additional studies are needed to examine the relationship between health-related quality of life and disease markers and to further establish the validity of the PedsQL 4.0 in this population.
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PMID:Health-related quality of life in children with Friedreich ataxia. 2039 87