About Myotonic Dystrophy
Myotonic Dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, caused by a CTG trinucleotide repeat expansion in the DMPK gene on chromosome 19q13.3. It is a multisystem disorder affecting skeletal muscle, cardiac muscle, the lens of the eye, and the endocrine and central nervous systems. Disease severity correlates with repeat length, and anticipation — worsening across generations — is a hallmark feature.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Myotonic Dystrophy trials.
Trials often require genetic confirmation of CTG repeat length (typically >50 repeats for DM1); have your genetic report ready
Cardiac eligibility screens are common — bring a recent ECG and echocardiogram as conduction defects may be exclusion criteria
Functional outcome measures such as grip strength myometry and the MIRS scale are standard; baseline assessments strengthen eligibility documentation
Patient Resources
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