Health-related quality of life in patients with spinocerebellar ataxia

Health-related quality of life in patients with spinocerebellar ataxia, C.R. Sánchez-López, L. Perestelo-Pérez, A. Escobar, J. López-Bastida, P. Serrano-Aguilar, Neurología (English Edition), Available online 9 January 2017, ISSN 2173-5808, doi:10.1016/j.nrleng.2015.09.002.

Spinocerebellar ataxia (SCA) comprises a group of clinically and genetically heterogeneous diseases characterised by cerebellar degeneration, including up to 17 types of SCA with an autosomal dominant inheritance pattern and 5 type sof SCA with autosomal recessive inheritance. Overall SCA prevalence in Spain is 20.2 cases per 100 000 population.The prevalence of the autosomal dominant types of SCA is 1.2 cases per 100 000; prevalence of Friedreich ataxia,the most frequent autosomal recessive type of SCA, is 4.7 per 100 000 population.
In summary, decreased HRQoL in SCA seems to beexplained, at least partially, by loss of gait-related motorskills and the likely presence of depression and sleepdisorders. Early detection and effective treatment ofthese variables may contribute to improving HRQoL inpatients with SCA. Our findings suggests that making rehabilitation moreaccessible and intensive would delay and limit thephysical deterioration leading to disability and loss of independence for walking and performing daily living activ-ities. Psychotherapy, a supplementary treatment frequentlyrequested by patients with SCA, may also contribute toreducing the impact of the disease on non-motor function. Likewise, using self-administered HRQoL questionnaires inroutine clinical practice may provide useful additional information rarely obtained from conventional clinical assessment. Using SF-36 to measure HRQoL in patients with SCA in our setting would be useful not only for evaluating theresults of studies and clinical trials, but also for assessingthe real needs of these patients and their carers, which will result in better healthcare planning and allocation of resources.