A Registered Observational Cohort Study of Myotonic Dystrophy Type 1

A Registered Observational Cohort Study of Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy.There is little phenotype and genetic data for Chinese DM1 patients. The data to be collected is intended to fill this gap and provide complementary data

Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. The China DM1 patient registry is a nationwide, population-based, non-interventional, observational cohort clinical study of all age groups of genetically-confirmed DM1 patients from families (with at least 1 affected member), collecting data retrospectively at study entry and prospectively during follow up. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, the data to be collected is intended to fill this gap and provide complementary data.

Inclusion Criteria:

• Male or female subjects of all ages at baseline
• Subjects, with or without symptoms, with DM1 genetic confirmation through triplet-primed PCR or long-read sequencing
• Unrelated healthy controls

Exclusion Criteria:

• Decline to participate
• Other neuromuscular disease (such as Limb-girdle muscular dystrophy or Oculopharyngodistal Myopathy)
• Serious systemic illness (such as heart, liver, kidney disease or major mental illness)