A higher caregiver burden is associated with lower health-related quality of life in patients with spinal muscular atrophy (SMA), found a new study published in the journal Brain Sciences. It was also associated with higher depression and anxiety in the patient and more health impairments in the caregivers. 

“We conclude that patient and [caregiver] well-being levels interact closely, which highlights the need to consider the health of both parties while evaluating novel treatments,” the researchers wrote. 

Read more about SMA diagnosis

Continue Reading

In order to evaluate the health-related quality of life of patients with SMA as well as the burden of their caregivers, a team of researchers from Germany led by Olivia Schreiber-Katz, MD, of the Department of Neurology, Hannover Medical School, conducted 2 prospective, cross sectional, multicenter studies. 

A total of 39 patients with SMA and 49 SMA/caregiver pairs completed the EuroQoL Five Dimension Five Level Scale (EQ-5D-5L) and the Short Form Health Survey 36 (SF-36) questionnaires. In addition, the caregivers also completed the Zarit Burden Interview (ZBI) and the Hospital Anxiety and Depression Scale (HADS).

The results showed that although patients with more severe disease had lower physical functioning, their mental health and vitality were good. 

On the other hand, the caregiver burden negatively correlated with the motor/functional scores of the patients as well as their age.

The researchers concluded that not only does SMA affects a patient’s health-related quality of life, but it can also have a negative impact on the health of the caregivers.

SMA is a rare disease caused by a mutation in the SMN1 gene. This gene encodes a protein that is crucial for the survival of motor neurons. When there is a mutation in the SMN1 gene, no functional SMN protein can be made from this gene. This results in motor neurons dying and leads to muscle weakness and atrophy.


Wohnrade C, Velling AK, Mix L, et al. Health-related quality of life in spinal muscular atrophy patients and their caregivers—a prospective, cross-sectional, multi-center analysis. Brain Sci. 2023;13;110. doi:10.3390/brainsci13010110