In a recent article titled “Consensus clinical management guidelines for Friedreich ataxia” published in the journal Orphanet Journal of Rare Diseases, Louise Corben from the Children’s Research Institute, Australia and colleagues on behalf of the Clinical Management Guidelines Writing Group Murdoch reviewed the current guidelines for clinical management of Friedreich’s Ataxia (FRDA).
Friedreich’s ataxia is a multisystem autosomal recessive condition caused by mutations in the FXN gene. FRDA affects about 1 in 29,000 individuals and causes progressive afferent and cerebellar ataxia, dysarthria, fixation instability, impaired vibration sense and proprioception, and pyramidal weakness. The majority of patients who suffer from this condition have absent lower limb reflexes while some who retain reflexes may suffer from spasticity. Scoliosis, diabetes, foot deformity and cardiomyopathy are also common non-neurological manifestations of the disease. Currently, FRDA has no cure and there are no approved treatments to slow disease progression.
In the review, a total of 31 specialists from Australia, Europe, Canada and the US critically appraised the published evidence related to FRDA clinical care, providing the available evidence in a concise manner. Data was retrieved from PubMed, MEDLINE, CINAHL, Best Practice, Cochrane Database of Systematic Reviews, EMBASE and Scopus.
Results revealed there was a lack of evidence relative to FRDA guidelines and that data retrieved from databases was solely based on recommendations for the treatment of similar conditions.
The researchers then reported the methodology and outcome of developing clinical management guidelines for people with FRDA. From a total of 146 recommendations for clinical management of the disease, 62% were based on expert opinions, suggesting a lack of clinical studies assessing the actual clinical management of FRDA.
The review indicated that all 146 recommendations are related to 1) the neurological components of FRDA; 2) the heart, cardiovascular and respiratory system; 3) scoliosis; 4) diabetes mellitus; 5) genetic issues; 6) FRDA due to FXN compound heterozygosity; 7) pregnancy issues; 8) quality of life issues. There were three recommendations graded as A, six graded as B, 28 graded as C, 17 graded as D and 92 GPP (according to the National Health and Medical Research Council grading of evidence for recommendations).
This study provided a critical first step in the establishment of appropriate clinical care for people with FRDA. The team concluded there is an urgency to undertake high-quality clinical studies that can ensure the delivery of optimum clinical management and intervention for FRDA patients.
Full information on these guidelines can be found at: http://www.curefa.org/physicians.html
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