A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

Study Overview
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Brief Summary
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Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. This disease results from an expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3'-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, this study aims to fill this gap and provide complementary data.

Detailed Description
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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.

Official Title
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A Multicenter Phenotype-Genotype Analysis of Type 1 Myotonic Dystrophy 1 Patients in China

Conditions
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Myotonic Dystrophy 1

Intervention / Treatment
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* Diagnostic Test: Brain MRI scan


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| DM1 patients<br>Patient cohort | Diagnostic Test: Brain MRI scan<br>* Normal brain MRI scan to evaluate the integrity of the nervous system<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Changes in 10 Metre Walk Test (10MWT) | The 10 Metre Walk Test is a performance measure used to assess walking speed in meters per second over a short distance. It can be employed to determine functional mobility, gait, and vestibular function | Baseline, Year 3, Year 5 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Changes in ESS scale | The Epworth Sleepiness Scale (ESS) measures the general level of daytime sleepiness. It is a subjective scale ranging from 0 to 24, asking the respondent to rate their propensity to doze off or fall asleep during eight common daily activities to assess the level of daytime sleepiness. A higher score on the ESS indicates a greater likelihood of daytime dozing. | Baseline, Year 3, Year 5 | 
| Changes in 6-Minute Walk Test | The 6-Minute Walk Test is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered in 6 minutes serves as the outcome for comparing changes in performance capacity. | Baseline, Year 3, Year 5 | 
| Changes in FSS scale | The Fatigue Severity Scale (FSS) is a method for evaluating the impact of fatigue on the participant. The FSS questionnaire contains nine statements that rate the severity of the participant's fatigue symptoms, ranging from 7 to 63. A higher score indicates more severe fatigue symptoms in the participant. | Baseline, Year 3, Year 5 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Observational