Researchers reported how the ability to walk affected the quality of life (QoL) of adults with 5q-spinal muscular atrophy (SMA), as published in a letter to the editor in the journal Annals of Physical and Rehabilitation Medicine.
The evaluation of the Quality of Life in Genetic Neuromuscular Disease (QoL-gNMD) score of adult patients with 5q-SMA (n=10) showed that patients who never walked had better QoL than patients who lost or are in the process of losing the ability to walk.
In contrast, patients in the process of losing the ability to walk presented with the lowest QoL-gNMD scores (ie, poorer QoL). The patients were followed at the Referral Center of Adult Neuromuscular Disease in Reims, France.
Hence, the authors believe that the usual distinction between patients with 5q-SMA who are walkers and nonwalkers might be an oversimplified version of the real scenario, which depends on patients’ past and present situations.
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“The reference frame of the [losing walking] group with a ‘walking’ self-image assigns a lot of value to their present walking ability and to its loss if this applies,” the authors said. Differences in perception might explain these results.
“When a situation changes a person’s functional capacities, there is a ‘shift’ in assessments via a recalibration, reconceptualization and redefinition of priorities. This shift in responses changes the person’s view of their QoL in relation to current, not past abilities,” they further explained.
The 10 participants completed the QoL-gNMD questionnaire monthly. The questionnaire scores 3 domains from 0 to 100: impact of physical symptoms (7 items), self-perception (8 items), and activities and social participation (9 items). The evaluation of the natural history of the QoL-gNMD aims to inform future therapeutic interventions.
Poitou T, Boyer FC, Benoit C, et al. Mobility and quality of life among adults with 5q-spinal muscular atrophy: the influence of individual history. Ann Phys Rehabil Med. 2021;65(2):101552. doi:10.1016/j.rehab.2021.101552