The purpose of this registry is to continue to build our ADSSL1 community and accurately understand the natural course of your condition in order to allow researchers to better understand ADSSL1 myopathy which will help to develop treatments for ADSSL1 myopathy. If you or a family member are affected by ADSSL1 myopathy, please register here. We are partnering with CMDIR (Congenital Muscle Disease International registry), the largest global registry of affected individuals with congenital through late onset muscle conditions.
Please follow the link below to the CMDIR registry consent form to learn more about your rights as a participant and how this information is used and stored.
If you are registering yourself or on behalf of a patient with confirmed genetic diagnosis of ADSSL1 myopathy, please make note of the following:
Thank you for your time and information!