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#apaperaday:Patient- and caregiver-reported impact of symptoms in Duchenne muscular dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Patient- and caregiver-reported impact of symptoms in Duchenne muscular dystrophy

Paper Rosero et al from Muscle & Nerve on the patient and caregiver reported impact of symptoms in Duchenne. DOI 10.1002/mus.28102

Authors wanted to investigate which symptoms pose the largest burden on Duchenne patients to improve care, rehabilitation and therapeutic interventions. They first did a round of interviews with patients age 18+ and caregivers of patients 11 years and older.

This resulted in over 3000 quotes of how symptoms impacted life. From this authors made a cross sectional study with specific questions that they asked 200 participants (87 Duchenne patients and 113 caregivers).

Patients outlined walking problems & mobility issues were a burden as was the inability to do activities. For older patients arm/hand weakness & shoulder/arm weakness were mentioned. All patients experienced problems with running/walking, & had trunk weakness and muscle weakness.

The impact of symptoms as perceived by patients was largest for needing help to rise from the floor and difficulty going upstairs. Caregivers mentioned the inability to play sports or participate in playing.

Older patients mentioned swallowing difficulties and risk of choking and respiratory problems. Scoliosis is also reported as severely increasing burden.

Authors report that patients who used steroids experienced more problems and symptoms, but they discuss that the patients on steroids were significantly older than those not on steroids, so likely this is a consequence (more problems because older) and not a cause (more problems due to steroids).

Caregivers reported a higher impact and disease burden than patients. Also here, this is likely because the patients from the group where caregivers participated in the study are older and thus experience a higher disease burden due to a more advanced stage of disease.

Authors discuss the limitations of the study: this is a selected set of patients, where non-Caucasians are underrepresented and where patients who experience much burden from the disease will not have been able to participate in the study because of the burden.

While the study may not have revealed new symptoms, studying the impact and which symptoms lead to largest impact is important. I think especially the swallowing and choking symptoms are understudied while they obviously have a high impact on burden.