Key Challenges to Future


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 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 in the 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 health care model systems for those with neuromuscular disease despite increasing direct and indirect financial burdens on patients and their families. Despite the recent introduction of the patient-centered outcomes research institute,1 there is 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.  This includes prevention of complications (for example, prevention strategies for falls specific to this population), and cost effective management at the community level (for example, home based interventions using information technology/telemedicine). There is a lack of training and resources available to primary care providers who manage patients with neuromuscular disease in typical community settings. The ever increasing demand on physicians to see high volumes of patients may also be impacting the quality of evaluations of neuromuscular diseases which typically require intense and lengthy historical intakes. Collaboration amongst interdisciplinary teams, rehabilitation specialists, health care leadership, public health stakeholders, researchers, and academic institutions to educate future healthcare providers in 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.


  • Fourth Edition

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