Join the Muscle Disease Registry

Register with the CMDIR to help give scientists the data and tools they need to perform necessary and important NM research.

Get Tested & Diagnosed

If you have not pursued genetic confirmation or have received non-specific genetic results, please consider the following:

  • Get a referral to a geneticist or genetic counselor to discuss your options
  • Your physician may be able to order genetic testing via Detect Muscular Dystrophy with Invitae; ask your medical provider for help
  • Contact AFBS with any questions

Donate Tissue Samples

If you or your loved one with a confirmed form of congenital nemaline myopathy will be having surgery, or wishes to donate tissue samples at the time of death, please contact as soon as possible about the option to collect one or more samples for NM research use.

Tissue: A Group of cells or fluid that work together to perform a specific job in the body.

Inform Medical Providers: ICD Code for Nemaline Myopathy G71.21

In 2021, our community advocates were successful in getting an International Diagnostic Code (ICD) designated specifically for Nemaline Myopathy. Most NM clinicians, patients, and families do not know this yet, but it’s imperative that medical records of nemaline myopathy patients be properly coded.

Message, call, or speak to your medical providers to educate them to ensure your medical records are being coded correctly. Your clinical billing office will need to be made aware of this, too. Tell them to use ICD-11 code G71.21 for all Nemaline Myopathy patient encounters.