Key Challenges to Future

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Lead Author(s): 

Jonathan S. Kirschner, MD, RMSK
Se Won Lee, MD

Supporting Author(s): 

Sylvia I. Watkins-Castillo, PhD

The true prevalence and burden of neuromuscular diseases is likely underestimated due to insufficient research in the area. These conditions often cause significant pain, motor impairment, loss of work, and can lead to chronic disability. They may require lifelong rehabilitative care, utilizing many resources in the form of pain management, physical and occupational therapy, bracing, wound care, and nursing care.  Quality of life can be severely affected.

These are an important group of diseases not only because of their direct impact, but also their indirect impact leading to other musculoskeletal conditions, such as accelerated degenerative joint disease, scoliosis, and osteoporosis.  They have a high caregiver burden, and often lead to emotional strain on patients and families.

The datasets assessing hospital discharges are compelling in that patients with neuromuscular disease stay in the hospital longer, at a higher cost, and are discharged to places other than home more often. This does not tell the whole story, however, as many of these conditions are treated an outpatient setting. Relying on diagnosis codes can also underestimate prevalence since many patients are admitted or treated in an outpatient setting based on symptoms, without a clear diagnosis. Often the diagnosis is clinical, and the correct diagnostic code not used.

There is a scarcity of research on cost-effective healthcare model systems for those with neuromuscular disease despite increasing direct and indirect financial burdens on patients and their families. The recent introduction of the Patient-Centered Outcomes Research Institute (PCORI),1 is a step in the right direction, but there remains a shortage of outcome-based research from the neuromuscular patient perspective.  

Current postgraduate education and training of clinicians is limited in the management of chronic neuromuscular disease, including training on the prevention of complications (e.g., prevention strategies for falls specific to this population) and cost-effective management at the community level (e.g., home-based intervention using information technology/telemedicine). There is also a lack of training and resources available to primary care providers who manage patients with neuromuscular disease in typical community settings. Training is needed on collaboration amongst interdisciplinary teams that include rehabilitation specialists, healthcare leadership, public health stakeholders, researchers, and academic institutions with a focus on educating future healthcare providers on how neuromuscular disease care could be improved.

  • 1. Selby, JV, Lipstein SH. PCORI at 3 years—progress, lessons, and plans. N Engl J Med 2014;370(7):592-595. doi: 10.1056/NEJMp1313061.


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