A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

Launched by HUASHAN HOSPITAL · Oct 20, 2023

Keywords

ClinConnect Summary

This is a multicenter-based, prospective, observational study that primarily focuses on the diagnosis and progression of DM1 patients in China. The investigators collect patient data, including basic information, strength evaluations, genetic data, electromyography results, cognitive performance, and MRIs.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Age between 18-80 years
• • With enough cognitivie ability to understand the content and sign the informed consent form
• • With CTG repeats \>50 in DMPK gene, revealed by PCR test
• Exclusion Criteria:
• • Patients with severe mental illness, or severe anxiety and depression
• • With comorbidities such as traumatic brain injury and cranial tumors
• • A history of alcoholism, psychotropic substance abuse, etc.
• • Patients with severe medical conditions and unstable vital signs that cannot tolerate the tests.
• • Female in pregnancy