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

The Rare Genomes Project is a free genetic testing resource for those living in the US suspected of having a rare disease, who do not yet have genetic confirmation of their subtype (including VUS and results that do not match the patient’s symptoms). We encourage the NM community to take advantage of this free program while it lasts. No referral is needed. No health insurance is required. The blood draw is done locally. Findings are reported to your physician who then orders clinical confirmation, with results reported to you through your physician.


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 Stacy.Cossette@childrens.harvard.edu or BeggsLabGC@childrens.harvard.edu as soon as possible about the option to collect one or more samples for NM research use.

The Beggs Lab at Boston Children’s Hospital, is a myopathy research program and biobank that serves as a place to safely store samples donated through medical procedures, such as surgeries, fetal sampling, and autopsies, to be used for medical research. The program staff can also arrange to receive your/your child’s left-over tissue from a previous muscle biopsy.

There is no cost to participate, and travel to Boston is not required. All enrollment is completed remotely.

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.