Science News: Decreased Quality of Life in Duchenne Muscular Disease Patients Related To Functional Neurological and Cardiac Impairment

Submitted by: Nakul Katyal, MD
Edited by: Milvia Pleitez, MD

Citation: Juříková L, Masárová L, Panovský R, Pešl M, Revendová KŽ, Volný O, Feitová V, Holeček T, Kincl V, Danhofer P, Voháňka S, Haberlová J and Podolská K (2024) Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment. Front. Neurol. 15:1360385.

Summary: This prospective study involved 37 patients 8 years and older who were diagnosed with Duchenne muscular dystrophy (DMD). The authors assessed the impact of both neurological and cardiac factors on quality of life (QoL) utilizing the PEDSQL 3.0 and EQ-5D questionnaires. 

The PEDSQL 3.0 Neuromuscular Module questionnaire, specifically designed for children, focuses on aspects such as neuromuscular disease impact, communication challenges, and family resources. The EQ-5D questionnaire comprises inquiries regarding mobility, self-care, daily activities, discomfort, anxiety, and overall health status.

Neurological status evaluation encompassed factors like ambulatory ability, need for assistance in sitting, and presence of scoliosis, including any history of corrective surgery. Upper limb mobility was assessed across five categories ranging from preserved mobility to reliance on assistive devices for tasks such as using a touchpad or mouse. Additionally, demographic information, current medication regimens, and comorbid conditions were recorded.

Participants were stratified into three age groups: 8–12 years, 13–18 years, and adult patients. Younger individuals completed the PEDSQL 3.0 questionnaire, while adults filled out the EQ-5D. Both DMD patients and their parents completed the PEDSQL 3.0 questionnaire.

Following a baseline assessment, patients underwent a neurological examination and subsequently completed the questionnaire on the same day. Cardiac magnetic resonance imaging (MRI) was performed within a week of the neurological evaluation.

The study revealed a negative relationship between upper limb movement and various aspects of daily function including overall mobility, self-care, and usual activities. Statistically significant differences were observed in total mobility, self-care, daily activities, and perceived well-being when comparing ambulatory versus non-ambulatory DMD patients, as well as sitting versus non-sitting individuals.

DMD patients receiving ACE inhibitors or sartans exhibited better overall mobility compared to those without such therapy. Furthermore, upper limb movement demonstrated a positive correlation with septal mitral annular plane systolic excursion (MAPSE), indicating a relationship between upper limb function and cardiac performance. However, no significant associations were detected between MAPSE and anxiety or depression levels.

Comments: This prospective study provided a comprehensive assessment of the QoL in DMD patients across different age groups and levels of disability, in relation to functional neurological and cardiac impairment. 

The authors observed that improved upper limb movement was linked to better overall mobility and emotional well-being, although QoL showed negative correlations with upper limb movement. Additionally, cardiac parameters were found to be interconnected with motor function. Variations in QoL were evident among ambulatory/non-ambulatory and sitting/non-sitting DMD patients.

A major limitation of the study was its small sample size and reliance on data from a single center. Further research investigating QoL in DMD is warranted to validate these findings. Despite these limitations, the results underscore the importance of implementing personalized care strategies in managing DMD patients.

Article of similar interest: Kohler M, Clarenbach CF, Böni L, Brack T, Russi EW, Bloch KE. Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy. Am J Respir Crit Care Med. (2005) 172:1032–6. doi: 10.1164/rccm.200503-322OC