Making Strides Toward Early Detection of Neuromuscular Diseases

Published March 10, 2025

The Late-Onset Neuromuscular Disease Consortium (LONDC) is an important project of the American Neuromuscular Foundation (ANF) focused on improving the lives of individuals living with late-onset neuromuscular diseases (LONDs). Collaborating closely with the patient community, the LONDC aims to identify shared experiences and challenges within this population to advance research and awareness. Through initiatives like the Common Experience Research and

Awareness Campaign, they are uncovering critical insights that can improve recognition and referral pathways for those affected by LONDs. Together with patients, healthcare providers, and key opinion leaders, they are building tools that empower individuals and providers alike to recognize the early signs of LONDs and facilitate timely specialist referrals. They have made substantial strides in executing our research program, including: 

  • More than 60 interviews with patients across 14 LONDs to understand first-hand experience with early signs and symptoms of these diseases 
  • More than 120 survey responses from primary care, advanced practice providers, and neurologists to identify challenges to recognizing LONDs and characterizing barriers to specialist referrals
  • Input from more than a dozen key opinion leaders and clinicians on clinical observations and summarizations of literature on both the commonalities and distinguishing features of LONDs 

From this research, they aim to develop a physician-focused tool to aid in the recognition and referral of potential LOND cases, and a consumer-focused mnemonic to help individuals recognize early signs of LONDs and advocate for specialist care. 

Key Milestones:

Now, the LONDC is drawing from these research efforts to gain alignment from the clinical and patient communities on the presenting symptoms that differentiate LONDs from other more common diagnoses and identify the diagnostic triggers that should signal the possibility of a NM condition. 

The first consensus discussion was held on Oct. 14, 2024, in Savannah, Georgia, ahead of the AANEM Annual Meeting. This meeting assembled a diverse group of more than 20 individuals, including NM specialists and key opinion leaders, representatives from patient communities and members of the LONDC Steering Committee, and industry partners and sponsors. This first session was intended to: 

  • Secure feedback on the research findings, including patient interviews, healthcare provider survey responses, and disease catalogue
  • Surface key considerations and end points to incorporate in the clinical tool
  • Review and iterate on an early outline of the clinical tool 
The LONDC was successful in outlining the combination of symptoms broadly indicative of LONDs, and aligning on the actions first line healthcare providers could take to more quickly identify patients who need to see a NM specialist on the basis of a suspected LOND. 

 

Next Steps:

Development of the clinical tool remains the first priority and key output of this work. The LONDC will continue to refine and iterate this tool with clinical and community leaders, before ultimately testing the tool in the clinic to demonstrate its ability to drive recognition of LONDs. 

Additional participation and perspectives in these continued consensus discussions are welcome. If you are interested in contributing to the conversation, please contact LONDC@neuromuscularfoundation.org.