This natural history observational study is being conducted to follow patients with DM1 or DM2 over a 2 year period to study the presence of myotonia, how it's perceived and its impact on patients quality of life. This study will be conducted at 6 study sites located in France.100 Patients will be recruited from the DM Scope Registry only. The study involves two parts. Part 1 will look back up to 18 months of past medical history that is already available from the DM Scope Registry. Part 2 will follow the same patients for 24 months, with study visits at Day 1 (Baseline), 12 months and 24 months. The goal is to better understand how myotonia symptoms and complications such as heart and other systemic problems develop and change over time. A smaller, sub-study will take place at one site, using new exploratory methods in about 40 patients with DM1 who are also part of the Track DM Study.
Enrolled in DM-scope registry genetically diagnosed with DM1 or DM2.
Affiliation or beneficiary of a social security system or of such a regime.
Ability to comprehend and willingness to sign an informed consent (ICF).
Male or non-pregnant female ≥18 years of age at screening.
No informed consent.
Pregnant or lactating women.
Subjects benefiting from laws aimed at protecting vulnerable adults: subjects being deprived of liberty by judicial or administrative decision, subjects under guardianship /curatorship.
Any medical condition or serious medical illness which in the opinion of the Investigator, precludes the participant's participation in the study or the participant is unlikely to comply with the protocol-defined procedures and therefore is unlikely to complete the study.
All patients will be recruited from DM-Scope Registry
Cohort
Other
Not listed
Change in stiffness severity assessed by Visual Analog Scale (VAS)
Absolute change in VAS stiffness score (0-100mm) between Baseline and Month 12
Change in myotonia severity assessed by the Myotonia Behavior Scale (MBS)
Absolute change in MBS score (1-6) between Baseline and Month 24.
Change in disease-related activity and participation assessed by DM1-Activ
Absolute change in DM1-Activ score (0-100) between Baseline and Month 24.
Change in health-related quality of life assessed by the Individualized Neuromuscular Quality of Life Questionnaire (INQoL)
Absolute change in INQoL: symptom subscores, life-domain subscores, overall total score, and treatment impact score (0-4 Likert) between Baseline and Month 24.
Change in cardiac function
Assessment of cardiac manifestations of DM1 using ECG and echocardiography, including LVEF, heart rate, PR interval, QRS interval, QT interval (QTcB and QTcF), and classification of cardiac function status (Normal, Abnormal-Not Clinically Significant, Abnormal-Clinically Significant).
Progression of opthalmologic manifestations
Presence or absence of cataracts at each study timepoint
Change in respiratory function
Absolute change in respiratory function as measured by spirometry, including forced vital capacity (FVC), forced expiratory volume in one second (FEV1), and FEV1/FVC ratio.
Change in Physical Examination Findings
Assessment and absolute changes in physical examination parameters, including BMI (weight (kg)/Height (m2)) and other clinically relevant findings (CS/NCS) at each study timepoint.
Exploratory Sub-study - Change in Motor Function Measures (MFM-32)
Assessment of muscle weakness and functional limitations over time using MFM-32 Scale (score 0-96)
Exploratory Sub-Study - Video Hand Opening Test (vHOT)
Assessment of delayed hand opening using the standardized Video Hand Opening Test. Myotonia is quantified as the time required for hand opening following voluntary contraction. Unit of Measurement: Seconds
Exploratory Sub Study - QMA-Based Myotonia Assessment
Detailed characterization of grip myotonia using Quantitative Muscle Assessment (QMA). Participants perform three series of six maximal grip contractions every 15 seconds, with a 10-minute rest between series. Myotonia is quantified as the average relaxation time from the first trial of each series. Unit of Measurement: seconds
Exploratory Sub-Study - Myotone Device Myotonia Assessment
Assessment of delayed muscle relaxation using the MyoTone handheld device. The device applies a brief mechanical impulse and records muscle oscillation response to quantify stiffness and relaxation properties. Unit of measure N/m.
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Lupin Ltd.
Lead sponsor
Lupin Atlantis Holdings S.A.
Collaborator
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