Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2

Egyéb feltételek

• DM 2 Inclusion Criteria:
• Age 30-65 years old
• 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; DM1 Inclusion Criteria:
• Only individuals who are 30-65 years old 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; DM 1 Exclusion Criteria:
• Congenital or juvenile-onset DM1 (onset of first symptom < 20-year-old)
• Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases
• Individuals with active psychiatric illness or alcohol/substance abuse
• On medications with substantial sedative or cognitive side effects unless the doses have been stable for at least 3 months before the study visit
• Inability or unwillingness to give written informed consent; DM 1 and 2 and Healthy Control (HC) Exclusion Criteria:
• Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI
• Individuals who are claustrophobic
• Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases
• Individuals with active psychiatric illness, alcohol or substance abuse, or dependence
• Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI
• Individuals who are claustrophobic
• Major medical illness which would prevent safe testing of MRI or motor function
• On medications with substantial sedative or cognitive side effects unless the doses have been stable over the last 3 months before the study visit
• pregnancy
• Weight > 400 pounds as the participant could not be properly positioned on the MRI table
• Inability or unwillingness to give written informed consent
• For participants who undergo lumbar puncture procedure: Use of anti-platelet medications within 7 days, use of anticoagulants such as warfarin (Coumadin), history of a bleeding disorders, evidence of platelet count < 150,000 within the last 6 months, or have hardware (i.e., pins, screws, rods, etc.) in the lower back area; Healthy Control (HC) Inclusion Criteria:
• Age 30-65 years
• Ambulate independently
• Able to provide informed consent for participation in the study