Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Massachusetts General Hospital
Summary
Myotonic dystrophy is associated with central sleep apnea, excessive daytime sleepiness, diminished working memory, impaired visuospatial skills, and deficits in problem-solving skills. Cerebrospinal fluid (CSF) is a clear, colorless fluid that surrounds and protects the brain. Changes in the composition of CSF can serve as early indicators of changes in brain activity and function. The purpose of this research is to learn about myotonic dystrophy by examining cerebrospinal fluid and brain activity in participants. The tests will be low risk and are well tolerated. The information that we gather from this study may help us evaluate, prevent, diagnose, treat, and improve our understanding of myotonic dystrophy. Funding Source- FDA OOPD
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- Not specified
Inclusion Criteria: * Subjects with DM1 based on genetic testing and/or clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). * Unaffected subjects are unknown to have myotonic dystropphy or any other muscular dystrophy by history and may have had no genetic testing. * Clinical indicators of current status, as measured within 30 days of study start: Able to provide informed consent or assent for participation in the study. * Demographic characterist…
Location
- Massachusetts General HospitalBoston, Massachusetts