Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life. Yet, relatively little is known about how DM2 affects brain structure and cognitive function as brain imaging studies in DM2 are extremely limited. This is a prospective, cross-sectional study of brain structure and function on cognitive and motor performance in patients with DM2 \& DM1 compared to healthy controls. All participants will undergo magnetic resonance imaging (MRI) to evaluate brain structure and white matter integrity, a comprehensive battery of cognitive and motor measures, self-reported questionnaires, and blood collection for brain-based biomarker analysis. A subset of participants will undergo lumbar puncture for cerebrospinal fluid (CSF) collection for additional biomarker analysis and validation. This work is critical to inform the development of rigorous clinical trial designs and plan for a longitudinal study to evaluate MRI measures as imaging biomarkers of disease progression and therapeutic response in DM2 \& DM1.
• Age 40 and older
• Diagnosis of DM1 or DM2 is based on genetic testing and/or clinical criteria. If the diagnosis is based on clinical criteria, positive DM2 genetic testing is required in first-degree relatives
• Symptoms or clinical findings of proximal muscle weakness
• Ambulate independently (a cane or walking stick is permitted)
• Able to provide informed consent for participation in the study
• Age 20 and older. Only individuals who are 40 years or older will be eligible to participate for the full study protocol
• Diagnosis of adult-onset DM1 is based on genetic testing or clinical criteria. If the diagnosis is based on clinical criteria, positive DM1 genetic testing is required in first-degree relatives
• The onset of first symptoms must be between the 2nd and 4th decades of life
• Symptoms or clinical findings of distal muscle weakness and myotonia
• Ambulate independently (a cane or walking stick is permitted)
• Able to provide informed consent for participation in the study
• Age 40 and older
• Ambulate independently
• Able to provide informed consent for participation in the study