#apaperaday: Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy

Today’s pick is from Schiava et al in World Muscle Society journal Neuromuscular Disorders on disease associated comorbidities in adults with Duchenne based on a retrospective analysis from the John Walton Muscular Dystrophy Research Centre. DOI: 10.1016/j.nmd.2024.05.007

Duchenne is caused by dystrophin, which has a function in muscle and brain. For muscle, the focus is usually on skeletal muscle and heart, but dystrophin also has a function in protecting smooth muscles from damage. With improved standards of care, patients now live longer.

This means they have time to develop pathology in the smooth muscles, impacting the GI (gastrointestinal) system and the urinary tracts. Here, authors did a retrospective analysis in adults with Duchenne (16 years and up) seen in the @jwmdrc to study comorbidities.

112 adults were included in the study, with an average age of 23.4 at the last visit. Dysphagia (difficulty with swallowing) was reported for 37% of patients; 47% of those had percutaneous endoscopic gastrostomy (PEG) feeding or a nasogastric tube.

Patients on steroids had a lower risk of developing dysphagia. Constipation was reported for 37%, and 66% of those used laxatives. From previous #apaperaday s, we know that constipation and GI problems can lead to life-threatening conditions in patients.

Also here, using steroids reduced the risk of developing constipation. Urinary tract problems were reported in 38% of patients, with 58% having incontinence. Kidney stones and urinary tract infections were also reported.

Scoliosis was reported in 62% of patients, and 61% of those had undergone surgery. The risk for scoliosis development decreased with the use of steroids. Most patients used at least 5 different medications, including steroids, heart medication, and medication to protect from steroid side effects.

The height of patients on steroids was reduced, while their weight was the same as for patients not on steroids, thus the BMI was higher for patients on steroids. Patients with GI problems and swallowing difficulties generally had a lower weight than those who did not.

Authors discuss that comorbidities are often underreported in the literature and that there should be more symptom-directed interrogation of patients. Knowing about comorbidities means they can be treated or managed.

Authors outline the issue of polypharmacy (patients taking many different medications, which can interact and affect each other). They discuss weight, where being too heavy can negatively impact respiration, but a reserve is needed when respiratory function takes more energy.

Authors discuss the limitations of the study: it was a retrospective analysis, so there is data missing, and the analysis relies on whether symptoms were reported. If clinicians did not ask or report, it is unknown if the patients had a comorbidity.

However, regardless of the limitations, it is clear that adult Duchenne patients have a lot of issues to deal with, which requires good management. I commend the authors for raising awareness about the comorbidities, and it’s good to see the risk for them is reduced with steroids.