Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy

Inclusion Criteria:

• Subjects with DM1 based on genetic testing and/or clinical criteria (some subjectswho have positive genetic testing may be asymptomatic, while other subjects who showcharacteristic clinical features may have declined to have genetic testing done).

• Unaffected subjects are unknown to have myotonic dystropphy or any other musculardystrophy 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 characteristics (e.g., biologic sex, age): Males and females age 18years and older.

Exclusion Criteria:

• Medical history of any of the following. State of immunosuppression; pre-existingliver or kidney disease; documented HIV positive; documented hepatitis B and/or Cpositive.

• Medications and other drugs. Use of anticoagulants within 60 days prior to lumbarpuncture and/or blood draw. Use of anti-platelet drugs within 7 days prior to blooddraw.

• Contraindications to MRI. The presence of any metal within the body, which wouldinclude any medical device containing metal, such as a pacemaker, defibrillator,some heart valves or stents, artificial joint, aneurysm clip, or inner ear device, ahistory of working with sheet metal, or an injury with metal shrapnel; pregnancy,due to effects of MRI on unborn children.

• Contraindications to Lumbar Puncture. Evidence of increased intracranial pressure oractive infection on exam; platelets less than 50,000.

• Other. Inability or unwillingness of the subject to give written informed consent.