The fifth webinar in the series, “Amplifying the NM Community’s Voice”, focuses on why genetic confirmation matters for treatments. Featured speakers include Dr. Carsten Bönnemann, Senior Investigator, Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health and Brianna Gross, MS,
Neuromuscular Genetic Counselor at Children’s Hospital of Philadelphia.

You can watch the recording of the webinar here:

AFBS founder and Executive Director, Marc Guillet, began by highlighting the research progress and goals of AFBS, featuring an updated research timeline.

An important highlight included the announcement that Nemaline Myopathy now has an ICD-10. An ICD-10 code is used by physicians and other healthcare providers to classify and code all diagnoses, symptoms and procedures recorded in conjunction with hospital care globally. If you or your loved one has Nemaline Myopathy, please make sure your medical team knows and uses the new billing diagnosis code for Nemaline Myopathy:


The webinar focused on the “Gene Therapy Toolbox”, presented by Dr. Bönnemann, a Board-Certified Pediatric Neurologist. We also heard from genetic counselor, Brianna Gross, who shared “a roadmap to confirming genetic subtype”.

After watching the recorded webinar, you can follow these suggested next steps:

If you’ve watched this webinar, please provide your feedback by completing this survey.

  • If you have a confirmed genetic diagnosis, please submit a copy of your genetic report by contacting the Nemaline Myopathy Registry Specialist Samantha Jacobson
  • If you have not pursued genetic confirmation or have received non-specific results, please consider the following:
  • GeneDx overview
  • Talk to a geneticist or genetic counselor to discuss your options
  • International families: Search Orphanet for a genetics specialty clinic

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