What is the Congenital Muscle Disease International Registry (CMDIR)?

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What is the Congenital Muscle Disease International Registry (CMDIR)?

The CMDIR is an international list of records from affected individuals with congenital through late-onset muscle disorders, including congenital muscular dystrophy, limb girdle muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome. View a detailed list of the neuromuscular disorders we register.

There are currently more than 3,000 registrants from 86 countries, representing 35 different disease subtypes caused by more than 100 genes (and counting).

The CMDIR was created in 2009 to identify the congenital muscle disease population, in order to aid researchers in understanding symptoms and disease course (called the natural history), assist with diagnostics, identify potential treatments, and enroll participants in clinical trials. Data in the CMDIR is registrant-reported and confirmed through medical record curation.

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About the CMDIR